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Volumn 6, Issue 3, 1991, Pages 196-219

Topical Review Article: Organic Acidurias: A Review. Part 1

Author keywords

[No Author keywords available]

Indexed keywords

ACIDURIA; ADOLESCENT; ADULT; BRAIN DISEASE; CHILD; HUMAN; HUMAN TISSUE; INFANT; MYOPATHY; NEUROLOGIC DISEASE; REVIEW; SEIZURE;

EID: 0025887657     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/088307389100600302     Document Type: Review
Times cited : (73)

References (311)
  • 1
    • 0014209619 scopus 로고
    • Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism
    • Budd MA, Tanaka K., Holmes LB, Young L.: Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism. N Engl J Med 1967; 277: 321-327.
    • (1967) N Engl J Med , vol.277 , pp. 321-327
    • MA, B.1    Tanaka, K.2    LB, H.3    Young, L.4
  • 2
    • 0013923852 scopus 로고
    • Isovalericacidemia: a new genetic defect of leucine metabolism
    • Tanaka K., Budd MA, Efron ML, Isselbacher KJ: Isovalericacidemia: a new genetic defect of leucine metabolism. Proc Natl Acad Sci USA 1966; 56: 236-242.
    • (1966) Proc Natl Acad Sci USA , vol.56 , pp. 236-242
    • Tanaka, K.1    MA, B.2    ML, E.3    KJ, I.4
  • 3
    • 0000171986 scopus 로고
    • Glycogen storage diseases
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) 6th ed New York, McGraw-Hill Information Services
    • Hers HG, Van Hoof F., de Barsy T.: Glycogen storage diseases, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed, Vol 1. New York, McGraw-Hill Information Services, 1989, pp 425-452.
    • (1989) The Metabolic Basis of Inherited Disease , vol.1 , pp. 425-452
    • HG, H.1    Van Hoof, F.2    de Barsy, T.3
  • 4
    • 0014144167 scopus 로고
    • Methylmalonicaciduria. An inborn error of metabolism leading to chronic metabolic acidosis
    • Oberholzer VG, Levin B., Burgess EA, Young WF: Methylmalonicaciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 1967; 42: 492-504.
    • (1967) Arch Dis Child , vol.42 , pp. 492-504
    • VG, O.1    Levin, B.2    EA, B.3    WF, Y.4
  • 5
    • 0014349198 scopus 로고
    • Propionicacidemia, a new inborn error of metabolism
    • Hommes FA, Kuipers Jrg, Elema JD, et al: Propionicacidemia, a new inborn error of metabolism. Pediatr Res 1968; 2: 519-524.
    • (1968) Pediatr Res , vol.2 , pp. 519-524
    • FA, H.1    Jrg, K.2    JD, E.3
  • 6
    • 0014217929 scopus 로고
    • Neonatal death associated with isovaleric acidemia
    • Newman Cgh, Wilson Bdr, Callaghan P., et al: Neonatal death associated with isovaleric acidemia. Lancet 1967; 2: 439-441.
    • (1967) Lancet , vol.2 , pp. 439-441
    • Cgh, N.1    Bdr, W.2    Callaghan, P.3
  • 7
    • 0022995791 scopus 로고
    • 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: A review
    • Wysocki SJ, Hahnel R.: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: A review. J Inherited Metab Dis 1986; 9: 225-233.
    • (1986) J Inherited Metab Dis , vol.9 , pp. 225-233
    • SJ, W.1    Hahnel, R.2
  • 8
    • 0016491634 scopus 로고
    • Glutaric aciduria: Presence of glutaconic and β-hydroxyglutaric acids in urine
    • Goodman SI, Thompson JA, Miles BS: Glutaric aciduria: Presence of glutaconic and β-hydroxyglutaric acids in urine. Biochem Med 1975; 12: 386-391.
    • (1975) Biochem Med , vol.12 , pp. 386-391
    • SI, G.1    JA, T.2    BS, M.3
  • 9
    • 0018409782 scopus 로고
    • L-Glutaric acidemia: Investigation of a patient and his family
    • Whelan DT, Hill R., Ryan ED, Spate M.: L-Glutaric acidemia: Investigation of a patient and his family. Pediatrics 1979; 63: 88-93.
    • (1979) Pediatrics , vol.63 , pp. 88-93
    • DT, W.1    Hill, R.2    ED, R.3    Spate, M.4
  • 10
    • 0017251307 scopus 로고
    • Inhibition of brain glutamate decarboxylase by glutarate, glutaconate and β-hydroxyglutarate: Explanation of symptoms in glutaric aciduria
    • Stokke O., Goodman SI, Moe PG: Inhibition of brain glutamate decarboxylase by glutarate, glutaconate and β-hydroxyglutarate: Explanation of symptoms in glutaric aciduria. Clin Chim Acta 1976; 66: 411-415.
    • (1976) Clin Chim Acta , vol.66 , pp. 411-415
    • Stokke, O.1    SI, G.2    PG, M.3
  • 11
    • 0021592501 scopus 로고
    • Snodgrass GJAI: Glutaric aciduria type 1 presenting with hypoglycaemia
    • Dunger DB, Snodgrass GJAI: Glutaric aciduria type 1 presenting with hypoglycaemia. J Inherited Metab Dis 1984; 7: 122-124.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 122-124
    • DB, D.1
  • 12
    • 0017356797 scopus 로고
    • Glutaric aciduria: Biochemical and morphologic considerations
    • Goodman SI, Norenberg MD, Shikes RH, et al: Glutaric aciduria: Biochemical and morphologic considerations. J Pediatr 1977; 90: 746-750.
    • (1977) J Pediatr , vol.90 , pp. 746-750
    • SI, G.1    MD, N.2    RH, S.3
  • 13
    • 0018143775 scopus 로고
    • Methyl malonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: Activity of urea cycle enzymes
    • Shapiro LJ, Bocian ME, Raijnan L., et al: Methyl malonyl-CoA mutase deficiency associated with severe neonatal hyperammonemia: Activity of urea cycle enzymes. J Pediatr 1978; 93: 986-988.
    • (1978) J Pediatr , vol.93 , pp. 986-988
    • LJ, S.1    ME, B.2    Raijnan, L.3
  • 14
    • 0022363066 scopus 로고
    • An evaluation of protein requirements in methylmalonic acidaemia
    • Ney D., Bay C., Saudubray JM, et al: An evaluation of protein requirements in methylmalonic acidaemia. J Inherited Metab Dis 1985; 8: 132-142.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 132-142
    • Ney, D.1    Bay, C.2    JM, S.3
  • 15
    • 0015517384 scopus 로고
    • Glucose-lactate interactions
    • Kreisberg RA: Glucose-lactate interactions in man. N Engl J Med 1973; 287: 132-137.
    • (1973) in man. N Engl J Med , vol.287 , pp. 132-137
    • RA, K.1
  • 16
    • 0018864840 scopus 로고
    • Regulation of hepatic fatty acid oxidation and ketone body production
    • McGarry JD, Foster DW: Regulation of hepatic fatty acid oxidation and ketone body production. Annu Rev Biochem 1980; 49: 395-420.
    • (1980) Annu Rev Biochem , vol.49 , pp. 395-420
    • JD, M.1    DW, F.2
  • 17
    • 0023036211 scopus 로고
    • Disorders of the pyruvate dehydrogenase complex
    • Stansbie D., Wallace SJ, Marsac C.: Disorders of the pyruvate dehydrogenase complex. J Inherited Metab Dis 1986; 9: 105-119.
    • (1986) J Inherited Metab Dis , vol.9 , pp. 105-119
    • Stansbie, D.1    SJ, W.2    Marsac, C.3
  • 18
    • 0018182489 scopus 로고
    • The role of malonyl-CoA in the coordination of fatty acid synthesis and oxidation in isolated rat hepatocytes
    • McGarry JD, Takabayashi Y., Foster DW: The role of malonyl-CoA in the coordination of fatty acid synthesis and oxidation in isolated rat hepatocytes. J Biol Chem 1978;253: 8294-8300.
    • (1978) J Biol Chem , vol.253 , pp. 8294-8300
    • JD, M.1    Takabayashi, Y.2    DW, F.3
  • 19
    • 0024390741 scopus 로고
    • The mitochondrial genome—breaking the magic circle
    • Harding AE: The mitochondrial genome—breaking the magic circle. N Engl J Med 1989; 320: 1341-1343.
    • (1989) N Engl J Med , vol.320 , pp. 1341-1343
    • AE, H.1
  • 20
    • 0025041271 scopus 로고
    • Mitochondrial encephalomyopathies
    • DiMauro S., Bonilla E., Lombes A., et al: Mitochondrial encephalomyopathies. Neurol Clin 1990; 8: 483-506.
    • (1990) Neurol Clin , vol.8 , pp. 483-506
    • DiMauro, S.1    Bonilla, E.2    Lombes, A.3
  • 21
    • 0000299656 scopus 로고
    • Disorders of branched chain amino acid and keto acid metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) 6th ed New York, McGraw-Hill Information Services
    • Danner DJ, Elsas LJ II: Disorders of branched chain amino acid and keto acid metabolism, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed, Vol 1. New York, McGraw-Hill Information Services, 1989, pp 671-692.
    • (1989) The Metabolic Basis of Inherited Disease , vol.1 , pp. 671-692
    • DJ, D.1    LJ, E.2
  • 22
    • 0015979779 scopus 로고
    • Gene-protein relationships of the alpha-keto acid dehydrogenase complexes of Escherichia coli K12: Chromosomal location of the lipoamide dehydrogenase gene
    • Guest RJ: Gene-protein relationships of the alpha-keto acid dehydrogenase complexes of Escherichia coli K12: Chromosomal location of the lipoamide dehydrogenase gene. J Gen Microbiol 1974; 80: 523-532.
    • (1974) J Gen Microbiol , vol.80 , pp. 523-532
    • RJ, G.1
  • 23
    • 0002610221 scopus 로고
    • The hyperphenylalaninemias
    • in Scriver CR, Beaudet AL, Sly WS, Valle D (eds) 6th ed New York, McGraw-Hill Information Services
    • Scriver CR, Kaufman S., Woo Slc: The hyperphenylalaninemias, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease, 6th ed, Vol 1. New York, McGraw-Hill Information Services, 1989, pp 495-546.
    • (1989) The Metabolic Basis of Inherited Disease , vol.1 , pp. 495-546
    • CR, S.1    Kaufman, S.2    Slc, W.3
  • 24
    • 0018115590 scopus 로고
    • Excretion of cisand trans-4-hydroxycyclohexylacetic acid in addition to Hawkinsin in a family with postulated defect of 4-hydroxyphenylpyruvate dioxygenase
    • Niederweiser A., Wadman SK, Danks DM: Excretion of cisand trans-4-hydroxycyclohexylacetic acid in addition to Hawkinsin in a family with postulated defect of 4-hydroxyphenylpyruvate dioxygenase. Clin Chim Acta 1978; 90: 195-200.
    • (1978) Clin Chim Acta , vol.90 , pp. 195-200
    • Niederweiser, A.1    SK, W.2    DM, D.3
  • 25
    • 0022851041 scopus 로고
    • Hereditary tyrosinemia type I—An overview
    • (Suppl)
    • Kvittingen EA: Hereditary tyrosinemia type I—An overview. Scand J Clin Lab Invest 1986; 46(Suppl):27-34.
    • (1986) Scand J Clin Lab Invest , vol.46 , pp. 27-34
    • EA, K.1
  • 26
    • 0023818297 scopus 로고
    • Asparto-acylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease
    • Matalon R., Michals K., Sebesta D., et al: Asparto-acylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988; 29: 463-471.
    • (1988) Am J Med Genet , vol.29 , pp. 463-471
    • Matalon, R.1    Michals, K.2    Sebesta, D.3
  • 27
    • 0025060731 scopus 로고
    • Aspartoacylase deficiency and Canavan disease in Saudi Arabia
    • Ozand PT, Gascon GG, Dahalla M.: Aspartoacylase deficiency and Canavan disease in Saudi Arabia. Am J Med Genet 1990; 35: 266-268.
    • (1990) Am J Med Genet , vol.35 , pp. 266-268
    • PT, O.1    GG, G.2    Dahalla, M.3
  • 28
    • 0021616787 scopus 로고
    • The management and long term outcome of organic acidemias
    • Suppl 1
    • Leonard JV, Daish P., Naughten ER, Bartlett K.: The management and long term outcome of organic acidemias. J Inherited Metab Dis 1984; 7(Suppl 1):13-17.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 13-17
    • JV, L.1    Daish, P.2    ER, N.3    Bartlett, K.4
  • 29
    • 0021173248 scopus 로고
    • Symptoms and signs in organic acidurias
    • Suppl 1
    • Brandt NJ: Symptoms and signs in organic acidurias. J Inherited Metab Dis 1984; 7(Suppl 1):23-27.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 23-27
    • NJ, B.1
  • 30
    • 0019776889 scopus 로고
    • Isovaleric acidemia appearing as diabetic ketoacidosis
    • Williams KM, Peden VH, Hillman RE: Isovaleric acidemia appearing as diabetic ketoacidosis. Am J Dis Child 1981; 135: 1068-1069.
    • (1981) Am J Dis Child , vol.135 , pp. 1068-1069
    • KM, W.1    VH, P.2    RE, H.3
  • 31
    • 0019773985 scopus 로고
    • Congestive cardiomyopathy associated with β-ketothiolase deficiency
    • Henry CG, Strauss AW, Keating JP, Hillman RE: Congestive cardiomyopathy associated with β-ketothiolase deficiency. J Pediatr 1981; 99: 754-757.
    • (1981) J Pediatr , vol.99 , pp. 754-757
    • CG, H.1    AW, S.2    JP, K.3    RE, H.4
  • 32
    • 0015445412 scopus 로고
    • Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: A preliminary report
    • Keating JP, Feigin RD, Tenenbaum SM, Hillman RE: Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: A preliminary report. Pediatrics 1972; 50: 890-895.
    • (1972) Pediatrics , vol.50 , pp. 890-895
    • JP, K.1    RD, F.2    SM, T.3    RE, H.4
  • 33
  • 34
    • 0021346589 scopus 로고
    • The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency
    • Robinson BH, Oei J., Sherwood WG, et al: The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Am J Hum Genet 1984; 36: 283-294.
    • (1984) Am J Hum Genet , vol.36 , pp. 283-294
    • BH, R.1    Oei, J.2    WG, S.3
  • 36
    • 0023724288 scopus 로고
    • 3-Methylglutaconicaciduria: A phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal
    • Gibson KM, Nyhan WL, Sweetman L., et al: 3-Methylglutaconicaciduria: A phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal. Eur J Pediatr 1988; 148: 76-82.
    • (1988) Eur J Pediatr , vol.148 , pp. 76-82
    • KM, G.1    WL, N.2    Sweetman, L.3
  • 37
    • 0024425020 scopus 로고
    • Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria
    • Fontaine M., Porchet N., Largilliere C., et al: Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria. Clin Chem 1989; 35: 2148-2151.
    • (1989) Clin Chem , vol.35 , pp. 2148-2151
    • Fontaine, M.1    Porchet, N.2    Largilliere, C.3
  • 38
    • 17144454593 scopus 로고
    • Hyperglycericacidaemia with hyperglycinaemia: A new inborn error of metabolism
    • Brandt NJ, Brandt S., Rasmussen K., Schonheyder F.: Hyperglycericacidaemia with hyperglycinaemia: A new inborn error of metabolism. Br Med J 1974; 4: 344.
    • (1974) Br Med J , vol.4 , pp. 344
    • NJ, B.1    Brandt, S.2    Rasmussen, K.3    Schonheyder, F.4
  • 39
    • 0019160310 scopus 로고
    • L'acidemie D-glycerique: À propos d'une nouvelle observation anatomo clinique
    • Grandgeorge D., Favier A., Bost M., et al: L'acidemie D-glycerique: À propos d'une nouvelle observation anatomo clinique. Arch Fr Pediatr 1980; 37: 577-584.
    • (1980) Arch Fr Pediatr , vol.37 , pp. 577-584
    • Grandgeorge, D.1    Favier, A.2    Bost, M.3
  • 40
    • 0021592363 scopus 로고
    • In vivo studies on the metabolic derangement in a patient with D-glyceric acidemia and hyperglycinemia
    • Kolvraa S., Gregersen N., Christensen E.: In vivo studies on the metabolic derangement in a patient with D-glyceric acidemia and hyperglycinemia. J Inherited Metab Dis 1984; 7: 49-52.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 49-52
    • Kolvraa, S.1    Gregersen, N.2    Christensen, E.3
  • 41
    • 0023200575 scopus 로고
    • Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex
    • Robinson BH, MacMillan H., Petrova-Benedict R., Sherwood WG: Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr 1987; 111: 525-533.
    • (1987) J Pediatr , vol.111 , pp. 525-533
    • BH, R.1    MacMillan, H.2    Petrova-Benedict, R.3    WG, S.4
  • 42
    • 0021991099 scopus 로고
    • Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy
    • Miyabayashi S., Ito T., Narisawa K., et al: Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy. Eur J Pediatr 1985; 143: 278-283.
    • (1985) Eur J Pediatr , vol.143 , pp. 278-283
    • Miyabayashi, S.1    Ito, T.2    Narisawa, K.3
  • 43
    • 0019414524 scopus 로고
    • Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy
    • Evans OB: Pyruvate decarboxylase deficiency in subacute necrotizing encephalomyelopathy. Arch Neurol 1981; 38: 515-519.
    • (1981) Arch Neurol , vol.38 , pp. 515-519
    • OB, E.1
  • 44
    • 0017108579 scopus 로고
    • Ketonic diet in the management of pyruvate dehydrogenase deficiency
    • Falk RE, Cederbaum SD, Blass JP, et al: Ketonic diet in the management of pyruvate dehydrogenase deficiency. Pediatrics 1976; 58: 713-721.
    • (1976) Pediatrics , vol.58 , pp. 713-721
    • RE, F.1    SD, C.2    JP, B.3
  • 45
    • 0015232457 scopus 로고
    • Intermittent ataxia with pyruvate-decarboxylase deficiency
    • Blass JP, Lonsdale D., Uhlendorf BW, Hom E.: Intermittent ataxia with pyruvate-decarboxylase deficiency. Lancet 1979; 1: 1302.
    • (1979) Lancet , vol.1 , pp. 1302
    • JP, B.1    Lonsdale, D.2    BW, U.3    Hom, E.4
  • 46
    • 0014747536 scopus 로고
    • A defect in pyruvate decarboxylase in a child with an intermittent movement disorder
    • Blass JP, Avigan J., Uhlendorf BW: A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J Clin Invest 1970; 49: 423-432.
    • (1970) J Clin Invest , vol.49 , pp. 423-432
    • JP, B.1    Avigan, J.2    BW, U.3
  • 47
    • 0021679539 scopus 로고
    • Episodic weakness in pyruvate decarboxylase deficiency
    • Evans OB: Episodic weakness in pyruvate decarboxylase deficiency. J Pediatr 1984; 105: 961-963.
    • (1984) J Pediatr , vol.105 , pp. 961-963
    • OB, E.1
  • 48
    • 0017393299 scopus 로고
    • Thiamine dependency in a patient with congenital lactic acidaemia due to pyruvate dehydrogenase deficiency
    • Wick H., Schweizer K., Baumgartner R.: Thiamine dependency in a patient with congenital lactic acidaemia due to pyruvate dehydrogenase deficiency. Agents Actions 1977;7: 405-410.
    • (1977) Agents Actions , vol.7 , pp. 405-410
    • Wick, H.1    Schweizer, K.2    Baumgartner, R.3
  • 49
    • 0017665294 scopus 로고
    • Hereditary mitochondrial myopathy with lactic acidemia. A deToni-Fanconi-Debre syndrome, and a defective respiratory chain in voluntary striated muscles
    • Van Biervliet Jpgm, Bruinvis L., Ketting D., et al: Hereditary mitochondrial myopathy with lactic acidemia. A deToni-Fanconi-Debre syndrome, and a defective respiratory chain in voluntary striated muscles. Eur Pediatr Res 1977; 11: 1088-1093.
    • (1977) Eur Pediatr Res , vol.11 , pp. 1088-1093
    • Van Biervliet, J.1    Bruinvis, L.2    Ketting, D.3
  • 50
    • 0018819202 scopus 로고
    • Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency
    • DiMauro S., Mendell JR, Sahenk Z., et al: Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology 1980; 30: 795-804.
    • (1980) Neurology , vol.30 , pp. 795-804
    • DiMauro, S.1    JR, M.2    Sahenk, Z.3
  • 51
    • 0020078879 scopus 로고
    • Cytochrome-c-oxidase deficiency in a floppy infant
    • Heiman-Patterson TD, Bonilla E., DiMauro S., et al: Cytochrome-c-oxidase deficiency in a floppy infant. Neurology 1982;32: 898-901.
    • (1982) Neurology , vol.32 , pp. 898-901
    • Heiman-Patterson, T.D.1    Bonilla, E.2    DiMauro, S.3
  • 52
    • 0020502324 scopus 로고
    • Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency
    • Minchom PE, Dormer RL, Hughes IA, et al: Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency. J Neurol Sci 1983; 60: 453-463.
    • (1983) J Neurol Sci , vol.60 , pp. 453-463
    • PE, M.1    RL, D.2    IA, H.3
  • 53
    • 0020678857 scopus 로고
    • Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine
    • Muller-Hocker J., Pongratz D., Deufel TH, et al: Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. Virchows Arch [A] 1983; 399: 11-23.
    • (1983) Virchows Arch [A] , vol.399 , pp. 11-23
    • Muller-Hocker, J.1    Pongratz, D.2    TH, D.3
  • 54
    • 0021856785 scopus 로고
    • Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient
    • Zeviani M., Nonaka I., Bonilla E., et al: Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient. Ann Neurol 1985; 17: 414-417.
    • (1985) Ann Neurol , vol.17 , pp. 414-417
    • Zeviani, M.1    Nonaka, I.2    Bonilla, E.3
  • 56
    • 0023248335 scopus 로고
    • Short-chain acylcoenzyme A dehydrogenase deficiency
    • Amendt BA, Greene C., Sweetman L., et al: Short-chain acylcoenzyme A dehydrogenase deficiency. J Clin Invest 1987; 79: 1303-1309.
    • (1987) J Clin Invest , vol.79 , pp. 1303-1309
    • BA, A.1    Greene, C.2    Sweetman, L.3
  • 57
    • 0023112673 scopus 로고
    • Familial Reye-like syndrome: A presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency
    • Taubman B., Hale DE, Kelley RI: Familial Reye-like syndrome: A presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 1987;79: 382-385.
    • (1987) Pediatrics , vol.79 , pp. 382-385
    • Taubman, B.1    DE, H.2    RI, K.3
  • 58
    • 0020540868 scopus 로고
    • Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet
    • Glasgow AM, Engel AG, Bier DM, et al: Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium chain triglyceride diet. Pediatr Res 1983; 17: 319-326.
    • (1983) Pediatr Res , vol.17 , pp. 319-326
    • AM, G.1    AG, E.2    DM, B.3
  • 59
    • 0021873302 scopus 로고
    • Long-chain acyl coenzyme A dehydrogenase deficiency: An inherited cause of nonketotic hypoglycemia
    • Hale DE, Batshaw ML, Coates PM, et al: Long-chain acyl coenzyme A dehydrogenase deficiency: An inherited cause of nonketotic hypoglycemia. Pediatr Res 1985; 19: 666-671.
    • (1985) Pediatr Res , vol.19 , pp. 666-671
    • DE, H.1    ML, B.2    PM, C.3
  • 60
    • 0022638172 scopus 로고
    • Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes
    • Roe CR, Millington DS, Maltby DA, et al: Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. J Pediatr 1986; 108: 13-18.
    • (1986) J Pediatr , vol.108 , pp. 13-18
    • CR, R.1    DS, M.2    DA, M.3
  • 61
    • 0018929454 scopus 로고
    • Twin siblings with a Reye's-like syndrome associated with an abnormal organic aciduria, hypoglycemia, diarrhea and vomiting with close similarities to Jamaican vomiting sickness
    • Chalmers RA, Lawson AM, Whitelaw A., Purkiss P.: Twin siblings with a Reye's-like syndrome associated with an abnormal organic aciduria, hypoglycemia, diarrhea and vomiting with close similarities to Jamaican vomiting sickness. Pediatr Res 1980; 14: 1097-1103.
    • (1980) Pediatr Res , vol.14 , pp. 1097-1103
    • RA, C.1    AM, L.2    Whitelaw, A.3    Purkiss, P.4
  • 62
    • 0021592474 scopus 로고
    • A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome
    • Del Valle JA, Garcia MJ, Merinero B., et al: A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome. J Inherited Metab Dis 1984;7: 62-64.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 62-64
    • Del Valle, J.A.1    MJ, G.2    Merinero, B.3
  • 63
    • 0021833004 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome
    • Bougneres PF, Rocchiccioli F., Kolvraa S.: Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome. J Pediatr 1985; 106: 919-921.
    • (1985) J Pediatr , vol.106 , pp. 919-921
    • PF, B.1    Rocchiccioli, F.2    Kolvraa, S.3
  • 64
    • 0018971643 scopus 로고
    • Hydroxymethylglutaryl CoA lyase deficiency: Features resembling Reye syndrome
    • Robinson BH, Oei J., Sherwood WG, et al: Hydroxymethylglutaryl CoA lyase deficiency: Features resembling Reye syndrome. Neurology 1980; 30: 714-718.
    • (1980) Neurology , vol.30 , pp. 714-718
    • BH, R.1    Oei, J.2    WG, S.3
  • 65
    • 0017844632 scopus 로고
    • Glutaric aciduria in progressive choreo-athetosis
    • Brandt NJ, Brandt S., Christensen E., et al: Glutaric aciduria in progressive choreo-athetosis. Clin Genet 1978; 13: 77-80.
    • (1978) Clin Genet , vol.13 , pp. 77-80
    • NJ, B.1    Brandt, S.2    Christensen, E.3
  • 66
    • 0020754821 scopus 로고
    • Glutaric acidemia as a cause of striatal necrosis in childhood
    • Goodman SI, Norenberg MD: Glutaric acidemia as a cause of striatal necrosis in childhood. Ann Neurol 1983; 3: 582-583.
    • (1983) Ann Neurol , vol.3 , pp. 582-583
    • SI, G.1    MD, N.2
  • 67
    • 0022085001 scopus 로고
    • CT scans of infants with glutaric aciduria
    • Bleck EE: CT scans of infants with glutaric aciduria. Dev Med Child Neurol 1985; 27: 401-406.
    • (1985) Dev Med Child Neurol , vol.27 , pp. 401-406
    • EE, B.1
  • 68
    • 0020525812 scopus 로고
    • Biotinidase deficiency: The enzymatic defect in late-onset multiple carboxylase deficiency
    • Wolf B., Grier RE, Allen RJ, et al: Biotinidase deficiency: The enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 1983;131: 273-281.
    • (1983) Clin Chim Acta , vol.131 , pp. 273-281
    • Wolf, B.1    RE, G.2    RJ, A.3
  • 69
    • 0020513116 scopus 로고
    • Phenotypic variation in biotinidase deficiency
    • Wolf B., Grier RE, Allen RJ, et al: Phenotypic variation in biotinidase deficiency. J Pediatr 1983; 103: 233-237.
    • (1983) J Pediatr , vol.103 , pp. 233-237
    • Wolf, B.1    RE, G.2    RJ, A.3
  • 70
    • 0022360708 scopus 로고
    • Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency
    • Suppl 2
    • Erasmus C., Mienie LJ, Reinecke CJ, Wadman SK: Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency. J Inherited Metab Dis 1985; 8(Suppl 2):105-106.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 105-106
    • Erasmus, C.1    LJ, M.2    CJ, R.3    SK, W.4
  • 71
    • 0021615191 scopus 로고
    • Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence
    • Shinnar S., Singer HS: Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. N Engl J Med 1984; 311: 451-454.
    • (1984) N Engl J Med , vol.311 , pp. 451-454
    • Shinnar, S.1    HS, S.2
  • 72
    • 0018834062 scopus 로고
    • Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: Observations on response to hydroxycobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test
    • Carmel R., Bedros AA, Mace JW, Goodman SI: Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: Observations on response to hydroxycobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. Blood 1980; 55: 570-579.
    • (1980) Blood , vol.55 , pp. 570-579
    • Carmel, R.1    AA, B.2    JW, M.3    SI, G.4
  • 73
    • 0022652473 scopus 로고
    • Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria
    • Mitchell GA, Watkins D., Melancon SB, et al: Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. J Pediatr 1986; 108: 410-415.
    • (1986) J Pediatr , vol.108 , pp. 410-415
    • GA, M.1    Watkins, D.2    SB, M.3
  • 74
    • 0014748026 scopus 로고
    • A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria
    • Levy HL, Mudd SH, Deyfus PM, Abeles RH: A derangement in B12 metabolism associated with homocystinemia, cystathioninemia, hypomethioninemia and methylmalonic aciduria. Am J Med 1970; 48: 390-397.
    • (1970) Am J Med , vol.48 , pp. 390-397
    • HL, L.1    SH, M.2    PM, D.3    RH, A.4
  • 75
    • 0021242743 scopus 로고
    • Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities
    • Robb RM, Dowton SB, Fulton AB, Levy HL: Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. Am J Ophthalmol 1984; 97: 691-696.
    • (1984) Am J Ophthalmol , vol.97 , pp. 691-696
    • RM, R.1    SB, D.2    AB, F.3    HL, L.4
  • 76
    • 0016241184 scopus 로고
    • Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism
    • Dillon MJ, England JM, Gompertz D., et al: Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism. Clin Sci Mol Med 1974; 47: 43-61.
    • (1974) Clin Sci Mol Med , vol.47 , pp. 43-61
    • MJ, D.1    JM, E.2    Gompertz, D.3
  • 77
    • 0022536126 scopus 로고
    • A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia
    • Mamlok RJ, Isenberg JN, Rassin DK, et al: A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. Neuropediatrics 1986; 17: 94-99.
    • (1986) Neuropediatrics , vol.17 , pp. 94-99
    • RJ, M.1    JN, I.2    DK, R.3
  • 78
    • 0021176964 scopus 로고
    • Methylmalonic aciduria with homocystinuria
    • Suppl 2
    • Ribes A., Vilaseca MA, Briones P., et al: Methylmalonic aciduria with homocystinuria. J Inherited Metab Dis 1984; 7(Suppl 2):129-130.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 129-130
    • Ribes, A.1    MA, V.2    Briones, P.3
  • 79
    • 0018690479 scopus 로고
    • Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria
    • Baumgartner ER, Wick H., Maurer R., et al: Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. Helv Paediatr Acta 1979; 34: 465-482.
    • (1979) Helv Paediatr Acta , vol.34 , pp. 465-482
    • ER, B.1    Wick, H.2    Maurer, R.3
  • 80
    • 0023201968 scopus 로고
    • Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity
    • Hallam LJ, Sawyer M., Clark Acl, Van Der Weyden MB: Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity. Blood 1987; 69: 1128-1133.
    • (1987) Blood , vol.69 , pp. 1128-1133
    • LJ, H.1    Sawyer, M.2    Acl, C.3    Van Der Weyden, M.B.4
  • 81
    • 0014693178 scopus 로고
    • Homocystinuria and organic aciduria in a patient with vitamin B12 deficiency
    • Hollowell JG, Hall WK, Coryell ME, et al: Homocystinuria and organic aciduria in a patient with vitamin B12 deficiency. Lancet 1969; 2: 1428.
    • (1969) Lancet , vol.2 , pp. 1428
    • JG, H.1    WK, H.2    ME, C.3
  • 82
    • 0018823518 scopus 로고
    • Epileptiform ocular movements with methylmalonic aciduria and homocystinuria
    • Cogan DG, Schulman J., Porter RJ, Mudd SH: Epileptiform ocular movements with methylmalonic aciduria and homocystinuria. Am J Ophthalmol 1980; 90: 251-253.
    • (1980) Am J Ophthalmol , vol.90 , pp. 251-253
    • DG, C.1    Schulman, J.2    RJ, P.3    SH, M.4
  • 83
    • 0014886059 scopus 로고
    • Homocystinuria with methylmalonic aciduria: Two cases in a sibship
    • Goodman SI, Moe PG, Hammond KB: Homocystinuria with methylmalonic aciduria: Two cases in a sibship. Biochem Med 1970; 4: 500-515.
    • (1970) Biochem Med , vol.4 , pp. 500-515
    • SI, G.1    PG, M.2    KB, H.3
  • 84
    • 0022444279 scopus 로고
    • New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria
    • Rosenblatt DS, Laframboise R., Pichette J., et al: New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria. Pediatrics 1986; 78: 51-54.
    • (1986) Pediatrics , vol.78 , pp. 51-54
    • DS, R.1    Laframboise, R.2    Pichette, J.3
  • 85
    • 0023029805 scopus 로고
    • Failure of lysosomal release of vitamin B12: A new complementation group causing methylmalonicaciduria (cb1F)
    • Watkins D., Rosenblatt DS: Failure of lysosomal release of vitamin B12: A new complementation group causing methylmalonicaciduria (cb1F). Am J Hum Genet 1986; 39: 404-408.
    • (1986) Am J Hum Genet , vol.39 , pp. 404-408
    • Watkins, D.1    DS, R.2
  • 86
    • 0021892612 scopus 로고
    • Defect in vitamin B 12 release from lysosomes: Newly described inborn error of vitamin B 12 metabolism
    • Rosenblatt DS, Hosack A., Matiaszuk NV: Defect in vitamin B 12 release from lysosomes: Newly described inborn error of vitamin B 12 metabolism. Science 1985; 228: 1319-1321.
    • (1985) Science , vol.228 , pp. 1319-1321
    • DS, R.1    Hosack, A.2    NV, M.3
  • 87
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace DC, Zheng X., Lott MT, et al: Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 1988; 55: 601-610.
    • (1988) Cell , vol.55 , pp. 601-610
    • DC, W.1    Zheng, X.2    MT, L.3
  • 88
    • 0024382876 scopus 로고
    • Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics
    • Lombes A., Mendell JR, Nakase H., et al: Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics. Ann Neurol 1989; 26: 20-33.
    • (1989) Ann Neurol , vol.26 , pp. 20-33
    • Lombes, A.1    JR, M.2    Nakase, H.3
  • 89
    • 0018885541 scopus 로고
    • Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome?
    • Fukuhara N., Tokiguchi S., Shirakawa K., Tsubaki T.: Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome? J Neurol Sci 1980; 47: 117-133.
    • (1980) J Neurol Sci , vol.47 , pp. 117-133
    • Fukuhara, N.1    Tokiguchi, S.2    Shirakawa, K.3    Tsubaki, T.4
  • 90
    • 0001035745 scopus 로고
    • Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities
    • Tsairis P., Engel WK, Kark P.: Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology 1978;23: 408.
    • (1978) Neurology , vol.23 , pp. 408
    • Tsairis, P.1    WK, E.2    Kark, P.3
  • 91
    • 0021638081 scopus 로고
    • Maternal isovaleric acidemia
    • Shih VE, Aubry RH, DeGrande G., et al: Maternal isovaleric acidemia. J Pediatr 1984; 105: 77-78.
    • (1984) J Pediatr , vol.105 , pp. 77-78
    • VE, S.1    RH, A.2    DeGrande, G.3
  • 92
    • 0019980321 scopus 로고
    • Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism
    • Duran M., Beemer FA, Tibosch AS, et al: Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolism. J Pediatr 1982;101: 551-554.
    • (1982) J Pediatr , vol.101 , pp. 551-554
    • Duran, M.1    FA, B.2    AS, T.3
  • 93
    • 0020516363 scopus 로고
    • Fumaric aciduria: A new organic aciduria, associated with mental retardation and speech impairment
    • Whelan DT, Hill RE, McClorry S.: Fumaric aciduria: A new organic aciduria, associated with mental retardation and speech impairment. Clin Chim Acta 1983;132: 301-308.
    • (1983) Clin Chim Acta , vol.132 , pp. 301-308
    • DT, W.1    RE, H.2    McClorry, S.3
  • 94
    • 0001117141 scopus 로고
    • Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of α-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial β-oxidation
    • Brown GK, Cromby CH, Manning NJ, Pollitt RJ: Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: Evidence of α-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial β-oxidation. J Inherited Metab Dis 1987; 10: 367-375.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 367-375
    • GK, B.1    CH, C.2    NJ, M.3    RJ, P.4
  • 95
    • 0022004108 scopus 로고
    • Succinic semialdehyde dehydrogenase deficiency—a further case
    • Haan EA, Brown GK, Mitchell D., Danks DM: Succinic semialdehyde dehydrogenase deficiency—a further case. J Inherited Metab Dis 1985; 8: 99.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 99
    • EA, H.1    GK, B.2    Mitchell, D.3    DM, D.4
  • 96
    • 0024584345 scopus 로고
    • Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: Potential for clinical misdiagnosis based on urinary organic acid profiling
    • Gibson KM, Goodman SI, Frerman FE, Glasgow AM: Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: Potential for clinical misdiagnosis based on urinary organic acid profiling. J Pediatr 1989; 114: 607-610.
    • (1989) J Pediatr , vol.114 , pp. 607-610
    • KM, G.1    SI, G.2    FE, F.3    AM, G.4
  • 97
    • 84886641788 scopus 로고
    • 4-hydroxybutyric aciduria: A new inborn error of metabolism. 1. Clinical review
    • Suppl 1
    • Rating D., Hanefeld F., Siemes H., Kneer J.: 4-hydroxybutyric aciduria: A new inborn error of metabolism. 1. Clinical review. J Inherited Metab Dis 1984; 7(Suppl 1):90-92.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 90-92
    • Rating, D.1    Hanefeld, F.2    Siemes, H.3    Kneer, J.4
  • 98
    • 0014911296 scopus 로고
    • Pyroglutamic aciduria—a new inborn error of metabolism
    • Jellum E., Kluge T., Borresen HC, et al: Pyroglutamic aciduria—a new inborn error of metabolism. Scand J Clin Lab Invest 1970; 26: 327-335.
    • (1970) Scand J Clin Lab Invest , vol.26 , pp. 327-335
    • Jellum, E.1    Kluge, T.2    HC, B.3
  • 99
    • 0015261215 scopus 로고
    • Esophageal hiatus hernia and mental retardation: Life-threatening postoperative metabolic acidosis and potassium deficiency linked with a new inborn error of nitrogen metabolism
    • Kluge T., Borresen HC, Jellum E., et al: Esophageal hiatus hernia and mental retardation: Life-threatening postoperative metabolic acidosis and potassium deficiency linked with a new inborn error of nitrogen metabolism. Surgery 1972; 71: 104-109.
    • (1972) Surgery , vol.71 , pp. 104-109
    • Kluge, T.1    HC, B.2    Jellum, E.3
  • 100
    • 0021848185 scopus 로고
    • Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria)
    • Larsson A., Wachtmeister L., von Wendt L., et al: Ophthalmological, psychometric and therapeutic investigation in two sisters with hereditary glutathione synthetase deficiency (5-oxoprolinuria). Neuropediatrics 1985; 16: 137-142.
    • (1985) Neuropediatrics , vol.16 , pp. 137-142
    • Larsson, A.1    Wachtmeister, L.2    von Wendt, L.3
  • 101
    • 84909942399 scopus 로고
    • Neonatal metabolic disorders masquerading as structural central nervous system anomalies
    • Weinstein SL, Novotny EJ: Neonatal metabolic disorders masquerading as structural central nervous system anomalies. Ann Neurol 1987; 22: 406.
    • (1987) Ann Neurol , vol.22 , pp. 406
    • SL, W.1    EJ, N.2
  • 102
    • 0020678009 scopus 로고
    • Glutaric acidemia type II: A form with deleterious intrauterine effects
    • Goodman SI, Reale M., Berlow S.: Glutaric acidemia type II: A form with deleterious intrauterine effects. J Pediatr 1983; 102: 411-413.
    • (1983) J Pediatr , vol.102 , pp. 411-413
    • SI, G.1    Reale, M.2    Berlow, S.3
  • 103
    • 0021447408 scopus 로고
    • Congenital anomalies in glutaric aciduria type 2
    • Mitchell G., Saudubray JM, Gubler MC, et al: Congenital anomalies in glutaric aciduria type 2. J Pediatr 1984; 104: 961-962.
    • (1984) J Pediatr , vol.104 , pp. 961-962
    • Mitchell, G.1    JM, S.2    MC, G.3
  • 104
    • 0019984852 scopus 로고
    • Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers
    • Lehnert W., Wendel U., Lindenmaier S., Bohm N.: Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. Eur J Pediatr 1982; 139: 56-59.
    • (1982) Eur J Pediatr , vol.139 , pp. 56-59
    • Lehnert, W.1    Wendel, U.2    Lindenmaier, S.3    Bohm, N.4
  • 105
    • 0023069453 scopus 로고
    • Glutaric acidemia type II and flavin-dependent enzymes in morphogenesis
    • Hoganson G., Berlow S., Gilbert EF, et al: Glutaric acidemia type II and flavin-dependent enzymes in morphogenesis. Birth Defects 1987;23: 65-74.
    • (1987) Birth Defects , vol.23 , pp. 65-74
    • Hoganson, G.1    Berlow, S.2    EF, G.3
  • 106
    • 0023143971 scopus 로고
    • Case report: Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features
    • Bennett MJ, Pollitt RJ, Land JM, et al: Case report: Lethal multiple acyl-CoA dehydrogenation deficiency with dysmorphic features. J Inherited Metab Dis 1987; 10: 95-96.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 95-96
    • MJ, B.1    RJ, P.2    JM, L.3
  • 107
    • 0019476322 scopus 로고
    • Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency
    • Robinson BH, Taylor J., Kahler SG, Kirkman HN: Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency. Eur J Pediatr 1981;136: 35-39.
    • (1981) Eur J Pediatr , vol.136 , pp. 35-39
    • BH, R.1    Taylor, J.2    SG, K.3    HN, K.4
  • 108
    • 0017758252 scopus 로고
    • Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): A cause of congenital chronic lactic acidosis in infancy
    • Robinson BH, Taylor J., Sherwood WG: Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): A cause of congenital chronic lactic acidosis in infancy. Pediatr Res 1977; 11: 1198-1202.
    • (1977) Pediatr Res , vol.11 , pp. 1198-1202
    • BH, R.1    Taylor, J.2    WG, S.3
  • 109
    • 0014933676 scopus 로고
    • Beta-hydroxyisovaleric aciduria and β-methylcrotonylglycinuria: A new inborn error of metabolism
    • Eldjarn L., Jellum E., Stokke O., et al: Beta-hydroxyisovaleric aciduria and β-methylcrotonylglycinuria: A new inborn error of metabolism. Lancet 1970;2: 521-522.
    • (1970) Lancet , vol.2 , pp. 521-522
    • Eldjarn, L.1    Jellum, E.2    Stokke, O.3
  • 110
    • 0022515296 scopus 로고
    • Mitochondrial acetoacetyl-CoA thiolase deficiency
    • Hartlage P., Eller G., Carter L., et al: Mitochondrial acetoacetyl-CoA thiolase deficiency. Biochem Med Metab Biol 1986; 36: 198-206.
    • (1986) Biochem Med Metab Biol , vol.36 , pp. 198-206
    • Hartlage, P.1    Eller, G.2    Carter, L.3
  • 111
    • 0019191766 scopus 로고
    • Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin-responsive disorder
    • Sander JE, Malamud N., Cowan MJ, et al: Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin-responsive disorder. Ann Neurol 1980; 8: 544-547.
    • (1980) Ann Neurol , vol.8 , pp. 544-547
    • JE, S.1    Malamud, N.2    MJ, C.3
  • 112
    • 0022639765 scopus 로고
    • Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset
    • De Visser M., Scholte HR, Schutgens Rbh, et al: Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset. Neurology 1986; 36: 367-372.
    • (1986) Neurology , vol.36 , pp. 367-372
    • De Visser, M.1    HR, S.2    Rbh, S.3
  • 113
    • 0019419263 scopus 로고
    • Mitochondrial myopathy: Biochemical studies revealing a deficiency of NADHcytochrome b reductase activity
    • Land JM, Morgan-Hughes JA, Clark JB: Mitochondrial myopathy: Biochemical studies revealing a deficiency of NADHcytochrome b reductase activity. J Neurol Sci 1981; 50: 1-13.
    • (1981) J Neurol Sci , vol.50 , pp. 1-13
    • JM, L.1    Morgan-Hughes, J.A.2    JB, C.3
  • 114
    • 0021219976 scopus 로고
    • Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain
    • Kennaway NG, Buist Nrm, Darley-Usmar VM, et al: Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain. Pediatr Res 1984; 18: 991-999.
    • (1984) Pediatr Res , vol.18 , pp. 991-999
    • NG, K.1    Nrm, B.2    Darley-Usmar, V.M.3
  • 116
    • 0017338735 scopus 로고
    • Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome?
    • Berenberg RA, Pellock JM, DiMauro S., et al: Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns-Sayre syndrome? Ann Neurol 1977; 1: 37—54.
    • (1977) Ann Neurol , vol.1 , pp. 37-54
    • RA, B.1    JM, P.2    DiMauro, S.3
  • 117
    • 0024328462 scopus 로고
    • Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
    • Moraes CT, DiMauro S., Zeviani M., et al: Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320: 1293-1299.
    • (1989) N Engl J Med , vol.320 , pp. 1293-1299
    • CT, M.1    DiMauro, S.2    Zeviani, M.3
  • 118
    • 0018307011 scopus 로고
    • Asymptomatic propionyl CoA carboxylase deficiency in a 13 year-old girl
    • Wolf B., Paulsen EP, Hsia YE: Asymptomatic propionyl CoA carboxylase deficiency in a 13 year-old girl. J Pediatr 1979; 95: 563-565.
    • (1979) J Pediatr , vol.95 , pp. 563-565
    • Wolf, B.1    EP, P.2    YE, H.3
  • 119
    • 0002848344 scopus 로고
    • Betaketothiolase deficiency: Two siblings with different clinical conditions
    • Suppl 2
    • Merinero B., Perez-Cerda C., Garcia MJ, et al: Betaketothiolase deficiency: Two siblings with different clinical conditions. J Inherited Metab Dis 1987; 10(Suppl 2):276-278.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 276-278
    • Merinero, B.1    Perez-Cerda, C.2    MJ, G.3
  • 120
    • 0019953514 scopus 로고
    • β-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts
    • Schutgens Rbh, Middleton B., Blij Jfvd, et al: β-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. Eur J Pediatr 1982; 139: 39-42.
    • (1982) Eur J Pediatr , vol.139 , pp. 39-42
    • Rbh, S.1    Middleton, B.2    Jfvd, B.3
  • 121
    • 0021147701 scopus 로고
    • Benign methylmalonic aciduria
    • Ledley FD, Levy HL, Shih VE, et al: Benign methylmalonic aciduria. N Engl J Med 1984; 311: 1015-1018.
    • (1984) N Engl J Med , vol.311 , pp. 1015-1018
    • FD, L.1    HL, L.2    VE, S.3
  • 122
    • 0017160727 scopus 로고
    • Methylmalonicaciduria without vitamin B 12 deficiency in an adult sibship
    • Giorgio AJ, Trowbridge M., Boone AW, Patten RS: Methylmalonicaciduria without vitamin B 12 deficiency in an adult sibship. N Engl J Med 1976; 295: 310-313.
    • (1976) N Engl J Med , vol.295 , pp. 310-313
    • AJ, G.1    Trowbridge, M.2    AW, B.3    RS, P.4
  • 123
    • 0022991503 scopus 로고
    • Sudden child death and “healthy” affected family members with medium-chain acylcoenzyme A dehydrogenase deficiency
    • Duran M., Hofkamp M., Rhead WJ: Sudden child death and “healthy” affected family members with medium-chain acylcoenzyme A dehydrogenase deficiency. Pediatrics 1986; 78: 1052-1057.
    • (1986) Pediatrics , vol.78 , pp. 1052-1057
    • Duran, M.1    Hofkamp, M.2    WJ, R.3
  • 124
    • 0019486432 scopus 로고
    • 5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers—A new inborn error of the gamma-glutamyl cycle
    • Larsson A., Mattsson B., Wauters Eak, et al: 5-Oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers—A new inborn error of the gamma-glutamyl cycle. Acta Paediatr Scand 1981; 70: 301-308.
    • (1981) Acta Paediatr Scand , vol.70 , pp. 301-308
    • Larsson, A.1    Mattsson, B.2    Eak, W.3
  • 125
    • 0022359012 scopus 로고
    • Alpha aminoadipic and alpha-ketoadipic aciduria: Detection of new case by a screening program using two-dimensional thin layer chromatography of amino acids
    • Suppl 2
    • Vianey-Liaud C., Divry P., Cotte J.: Alpha aminoadipic and alpha-ketoadipic aciduria: Detection of new case by a screening program using two-dimensional thin layer chromatography of amino acids. J Inherited Metab Dis 1985; 8(Suppl 2):133-134.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 133-134
    • Vianey-Liaud, C.1    Divry, P.2    Cotte, J.3
  • 126
    • 0019349864 scopus 로고
    • Massachusetts metabolic disorders screening program. II. Methylmalonic aciduria
    • Coulombe JT, Shih VE, Levy HL: Massachusetts metabolic disorders screening program. II. Methylmalonic aciduria. Pediatrics 1981; 1: 26-31.
    • (1981) Pediatrics , vol.1 , pp. 26-31
    • JT, C.1    VE, S.2    HL, L.3
  • 127
    • 0017176102 scopus 로고
    • Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings
    • Saudubray JM, Marsac C., Charpentier C., et al: Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings. Acta Paediatr Scand 1976; 65: 717-724.
    • (1976) Acta Paediatr Scand , vol.65 , pp. 717-724
    • JM, S.1    Marsac, C.2    Charpentier, C.3
  • 128
    • 0019742932 scopus 로고
    • Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency
    • Coude FX, Ogier H., Marsac C., et al: Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. Pediatrics 1981; 68: 914.
    • (1981) Pediatrics , vol.68 , pp. 914
    • FX, C.1    Ogier, H.2    Marsac, C.3
  • 129
    • 0019793350 scopus 로고
    • Lactic acidosis due to pyruvate carboxylase deficiency
    • Haworth JC, Robinson BH, Perry TL: Lactic acidosis due to pyruvate carboxylase deficiency. J Inherited Metab Dis 1981; 7: 57-58.
    • (1981) J Inherited Metab Dis , vol.7 , pp. 57-58
    • JC, H.1    BH, R.2    TL, P.3
  • 130
    • 0020539836 scopus 로고
    • The natural history of the inherited methylmalonic acidemias
    • Matsui SM, Mahoney MJ, Rosenberg LE: The natural history of the inherited methylmalonic acidemias. N Engl J Med 1983; 308: 857-861.
    • (1983) N Engl J Med , vol.308 , pp. 857-861
    • SM, M.1    MJ, M.2    LE, R.3
  • 132
    • 0020324194 scopus 로고
    • The biotin-dependent carboxylase deficiencies
    • Wolf B., Feldman GL: The biotin-dependent carboxylase deficiencies. Am J Hum Genet 1982; 34: 699-716.
    • (1982) Am J Hum Genet , vol.34 , pp. 699-716
    • Wolf, B.1    GL, F.2
  • 134
    • 0025341766 scopus 로고
    • A mitochondrial myopathy in an infant with lactic acidosis
    • Griebel V., Krageloh-Mann I., Ruitenbeek W., et al: A mitochondrial myopathy in an infant with lactic acidosis. Dev Med Child Neurol 1990; 32: 528-546.
    • (1990) Dev Med Child Neurol , vol.32 , pp. 528-546
    • Griebel, V.1    Krageloh-Mann, I.2    Ruitenbeek, W.3
  • 135
    • 0020502138 scopus 로고
    • Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency
    • DiMauro S., Nicholson JF, Hays AP, et al: Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol 1983; 14: 226-234.
    • (1983) Ann Neurol , vol.14 , pp. 226-234
    • DiMauro, S.1    JF, N.2    AP, H.3
  • 136
    • 0020528080 scopus 로고
    • Multiple acylCoA dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy
    • Niederwieser A., Steinmann B., Exner U., et al: Multiple acylCoA dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Helv Paediatr Acta 1983;38: 27-38.
    • (1983) Helv Paediatr Acta , vol.38 , pp. 27-38
    • Niederwieser, A.1    Steinmann, B.2    Exner, U.3
  • 137
    • 0022412656 scopus 로고
    • Multiple acyl-CoA dehydrogenase deficiency: A neonatal onset case responsive to treatment
    • Suppl 2
    • Verjee ZH, Sherwood WG: Multiple acyl-CoA dehydrogenase deficiency: A neonatal onset case responsive to treatment. J Inherited Metab Dis 1985; 8(Suppl 2):137-138.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 137-138
    • ZH, V.1    WG, S.2
  • 138
    • 0015365702 scopus 로고
    • An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis
    • Blass JP, Schulman JD, Young DS, Hom E.: An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis. J Clin Invest 1972; 51: 1485-1851.
    • (1972) J Clin Invest , vol.51 , pp. 1485-1851
    • JP, B.1    JD, S.2    DS, Y.3    Hom, E.4
  • 139
    • 0017161313 scopus 로고
    • Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency
    • Cederbaum SD, Blass JP, Minkoff N., et al: Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr Res 1976; 10: 713-720.
    • (1976) Pediatr Res , vol.10 , pp. 713-720
    • SD, C.1    JP, B.2    Minkoff, N.3
  • 140
    • 0021355981 scopus 로고
    • Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid
    • Matalon R., Stumpf DA, Michals K., et al: Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid. J Pediatr 1984; 104: 65-69.
    • (1984) J Pediatr , vol.104 , pp. 65-69
    • Matalon, R.1    DA, S.2    Michals, K.3
  • 141
    • 0020627002 scopus 로고
    • Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency
    • Kuhara T., Shinka T., Inoue Y., et al: Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta 1983;133: 133-140.
    • (1983) Clin Chim Acta , vol.133 , pp. 133-140
    • Kuhara, T.1    Shinka, T.2    Inoue, Y.3
  • 142
    • 0020022069 scopus 로고
    • Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: Dihydrolipoyl dehydrogenase deficiency
    • Munnich JA, Saudubray JM, Taylor J., et al: Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: Dihydrolipoyl dehydrogenase deficiency. Acta Paediatr Scand 1982; 71: 167-171.
    • (1982) Acta Paediatr Scand , vol.71 , pp. 167-171
    • JA, M.1    JM, S.2    Taylor, J.3
  • 143
    • 0022634509 scopus 로고
    • Mevalonic aciduria—An inborn error of cholesterol and nonsterol isoprene biosynthesis
    • Hoffmann G., Gibson KM, Brandt IK, et al: Mevalonic aciduria—An inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med 1986; 314: 1610-1614.
    • (1986) N Engl J Med , vol.314 , pp. 1610-1614
    • Hoffmann, G.1    KM, G.2    IK, B.3
  • 144
    • 34250101865 scopus 로고
    • Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis
    • Suppl 2
    • Gibson KM, Hoffmann G., Nyhan WL, et al: Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis. J Inherited Metab Dis 1987; 10(Suppl 2):282-285.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 282-285
    • KM, G.1    Hoffmann, G.2    WL, N.3
  • 145
    • 0023117240 scopus 로고
    • Two cases of NADH-coenzyme Q reductase deficiency: Relationship to MELAS syndrome
    • Kobayashi M., Morishita H., Sugiyama N., et al: Two cases of NADH-coenzyme Q reductase deficiency: Relationship to MELAS syndrome. J Pediatr 1987; 110: 223-227.
    • (1987) J Pediatr , vol.110 , pp. 223-227
    • Kobayashi, M.1    Morishita, H.2    Sugiyama, N.3
  • 146
    • 0018071854 scopus 로고
    • Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis
    • Askanas V., Engel WK, Britton DE: Reincarnation in cultured muscle of mitochondrial abnormalities. Two patients with epilepsy and lactic acidosis. Arch Neurol 1978; 35: 801-809.
    • (1978) Arch Neurol , vol.35 , pp. 801-809
    • Askanas, V.1    WK, E.2    DE, B.3
  • 147
    • 0021929746 scopus 로고
    • Maternally inherited mitochondrial myopathy and myoclonic epilepsy
    • Rosing HS, Hopkins LC, Wallace DC, et al: Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 1985; 17: 229-237.
    • (1985) Ann Neurol , vol.17 , pp. 229-237
    • HS, R.1    LC, H.2    DC, W.3
  • 148
    • 0018892805 scopus 로고
    • Glutaric aciduria type II
    • Sweetman L., Nyhan WL, Trauner DA, Merritt TA: Glutaric aciduria type II. J Pediatr 1980; 96: 1020-1026.
    • (1980) J Pediatr , vol.96 , pp. 1020-1026
    • Sweetman, L.1    WL, N.2    DA, T.3    TA, M.4
  • 149
    • 0018603668 scopus 로고
    • Recurrent hypoglycemia associated with glutaric aciduria type II in an adult
    • Dusheiko G., Kew MC, Joffee BI, et al: Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. N Engl J Med 1979; 301: 1405-1409.
    • (1979) N Engl J Med , vol.301 , pp. 1405-1409
    • Dusheiko, G.1    MC, K.2    BI, J.3
  • 150
    • 0022885285 scopus 로고
    • Fanconi syndrome in a patient with a variant of isovaleric acidemia
    • Arnold WC, Brewster M., Byrne WJ, Booth B.: Fanconi syndrome in a patient with a variant of isovaleric acidemia. Int J Pediatr Nephrol 1986; 7: 95-98.
    • (1986) Int J Pediatr Nephrol , vol.7 , pp. 95-98
    • WC, A.1    Brewster, M.2    WJ, B.3    Booth, B.4
  • 151
    • 0022624914 scopus 로고
    • Mitochondrial phosphoenolpyruvate carboxykinase deficiency
    • Clayton PT, Hyland K., Brand M., Leonard JV: Mitochondrial phosphoenolpyruvate carboxykinase deficiency. Eur J Pediatr 1986; 145: 46-50.
    • (1986) Eur J Pediatr , vol.145 , pp. 46-50
    • PT, C.1    Hyland, K.2    Brand, M.3    JV, L.4
  • 152
    • 0021941951 scopus 로고
    • Proximal renal tubular acidosis in methylmalonic acidemia
    • Wolff JA, Strom C., Griswold W., et al: Proximal renal tubular acidosis in methylmalonic acidemia. J Neurogenet 1985; 2: 31-39.
    • (1985) J Neurogenet , vol.2 , pp. 31-39
    • JA, W.1    Strom, C.2    Griswold, W.3
  • 153
    • 0020529446 scopus 로고
    • Neonatal 5-oxoprolinuria: Difficult to diagnose?
    • Mendelson IS, Christie E., Zaleski WA, et al: Neonatal 5-oxoprolinuria: Difficult to diagnose? J Inherited Metab Dis 1983; 6: 44-48.
    • (1983) J Inherited Metab Dis , vol.6 , pp. 44-48
    • IS, M.1    Christie, E.2    WA, Z.3
  • 154
    • 0021037071 scopus 로고
    • Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria
    • Oizumi J., Shaw Knf, Giudici TA, et al: Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria. Inherited Metab Dis 1983; 6: 89-94.
    • (1983) Inherited Metab Dis , vol.6 , pp. 89-94
    • Oizumi, J.1    Knf, S.2    TA, G.3
  • 155
    • 0021612581 scopus 로고
    • Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation
    • Bennett MJ, Hodking GP, Smith MF, et al: Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation. J Inherited Metab Dis 1984; 7: 125-128.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 125-128
    • MJ, B.1    GP, H.2    MF, S.3
  • 156
    • 0024587436 scopus 로고
    • Chronic renal failure in methylmalonic acidemia
    • Walter JH, Michalski A., Wilson WM, et al: Chronic renal failure in methylmalonic acidemia. Eur J Pediatr 1989; 148: 344-348.
    • (1989) Eur J Pediatr , vol.148 , pp. 344-348
    • JH, W.1    Michalski, A.2    WM, W.3
  • 157
    • 0021924821 scopus 로고
    • Suppression of granulopoietic progenitor cell proliferation by metabolites of the branched-chain amino acids
    • Hutchinson RJ, Bunnell K., Thoene JG: Suppression of granulopoietic progenitor cell proliferation by metabolites of the branched-chain amino acids. J Pediatr 1985; 106: 62-65.
    • (1985) J Pediatr , vol.106 , pp. 62-65
    • RJ, H.1    Bunnell, K.2    JG, T.3
  • 158
    • 0019377712 scopus 로고
    • Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: A mechanism for pancytopenia in a patient with methylmalonic acidemia
    • Inoue S., Krieger I., Sarnaik A., et al: Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: A mechanism for pancytopenia in a patient with methylmalonic acidemia. Pediatr Res 1981; 15: 95-98.
    • (1981) Pediatr Res , vol.15 , pp. 95-98
    • Inoue, S.1    Krieger, I.2    Sarnaik, A.3
  • 159
    • 0018868616 scopus 로고
    • The pancytopenia of isovaleric acidemia
    • Kelleher JF, Yudkoff M., Hutchinson R., et al: The pancytopenia of isovaleric acidemia. Pediatrics 1980; 65: 1023-1027.
    • (1980) Pediatrics , vol.65 , pp. 1023-1027
    • JF, K.1    Yudkoff, M.2    Hutchinson, R.3
  • 160
  • 161
    • 0018748386 scopus 로고
    • Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity
    • Cowan MJ, Wara DW, Packman S., Ammann AJ: Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet 1979;2: 115-118.
    • (1979) Lancet , vol.2 , pp. 115-118
    • MJ, C.1    DW, W.2    Packman, S.3    AJ, A.4
  • 162
    • 0018627180 scopus 로고
    • Protection of granulocytes by vitamin E in glutathione synthetase deficiency
    • Boxer LA, Oliver JM, Spielberg P., et al: Protection of granulocytes by vitamin E in glutathione synthetase deficiency. N Engl J Med 1979; 301: 901-905.
    • (1979) N Engl J Med , vol.301 , pp. 901-905
    • LA, B.1    JM, O.2    Spielberg, P.3
  • 163
    • 0018751584 scopus 로고
    • Oxidative damage to neutrophils in glutathione synthetase deficiency
    • Spielberg SP, Boxer LA, Oliver JM, et al: Oxidative damage to neutrophils in glutathione synthetase deficiency. Br J Haematol 1979; 42: 215-223.
    • (1979) Br J Haematol , vol.42 , pp. 215-223
    • SP, S.1    LA, B.2    JM, O.3
  • 164
    • 0021349965 scopus 로고
    • Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency
    • Sengers Rca, Trijbels Jmf, Bakkeren Jajm, et al: Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency. Eur J Pediatr 1984; 141: 178-180.
    • (1984) Eur J Pediatr , vol.141 , pp. 178-180
    • Rca, S.1    Jmf, T.2    Jajm, B.3
  • 165
    • 0019920381 scopus 로고
    • Cytochrome-c-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy
    • Rimoldi M., Bottacchi E., Rossi L., et al: Cytochrome-c-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol 1982; 227: 201—207.
    • (1982) J Neurol , vol.227 , pp. 201-207
    • Rimoldi, M.1    Bottacchi, E.2    Rossi, L.3
  • 166
    • 0017873549 scopus 로고
    • Glycine therapy in isovaleric acidemia
    • Yudkoff M., Cohn RM, Puschak R., et al: Glycine therapy in isovaleric acidemia. J Pediatr 1978; 92: 813-817.
    • (1978) J Pediatr , vol.92 , pp. 813-817
    • Yudkoff, M.1    RM, C.2    Puschak, R.3
  • 167
    • 0019511941 scopus 로고
    • Cerebellar hemorrhage complicating isovaleric acidemia: A case report
    • Fischer AQ, Challa VR, Burton BK, McLean WT: Cerebellar hemorrhage complicating isovaleric acidemia: A case report. Neurology 1981; 31: 746-748.
    • (1981) Neurology , vol.31 , pp. 746-748
    • AQ, F.1    VR, C.2    BK, B.3    WT, M.4
  • 168
    • 0021829020 scopus 로고
    • Forme neonatale de l'acidemie isovalerique. A propos d'une nouvelle observation
    • Beauvais P., Peter MO, Barbier B.: Forme neonatale de l'acidemie isovalerique. A propos d'une nouvelle observation. Arch Fr Pediatr 1985; 42: 531-533.
    • (1985) Arch Fr Pediatr , vol.42 , pp. 531-533
    • Beauvais, P.1    MO, P.2    Barbier, B.3
  • 169
    • 0023910827 scopus 로고
    • Isovaleric acidemia: Medical and neurodevelopmental effects of long-term therapy
    • Berry GT, Yudkoff M., Segal S.: Isovaleric acidemia: Medical and neurodevelopmental effects of long-term therapy. J Pediatr 1988; 113: 58-64.
    • (1988) J Pediatr , vol.113 , pp. 58-64
    • GT, B.1    Yudkoff, M.2    Segal, S.3
  • 170
    • 0022641280 scopus 로고
    • The response to L-carnitine and glycine therapy in isovaleric acidemia
    • De Sousa C., Chalmers RA, Stacey TE, et al: The response to L-carnitine and glycine therapy in isovaleric acidemia. Eur J Pediatr 1986; 144: 451-456.
    • (1986) Eur J Pediatr , vol.144 , pp. 451-456
    • De Sousa, C.1    RA, C.2    TE, S.3
  • 171
    • 0022412326 scopus 로고
    • L-Carnitine and glycine therapy in isovaleric acidaemia
    • Chalmers RA, de Sousa C., Tracey BM, et al: L-Carnitine and glycine therapy in isovaleric acidaemia. J Inherited Metab Dis 1982; 5: 141-142.
    • (1982) J Inherited Metab Dis , vol.5 , pp. 141-142
    • RA, C.1    de Sousa, C.2    BM, T.3
  • 172
    • 0019995247 scopus 로고
    • Isovaleric acidemia presenting with dwarfism, cataract and congenital abnormalities
    • Duran M., Bruinvis L., Ketting D., et al: Isovaleric acidemia presenting with dwarfism, cataract and congenital abnormalities. J Inherited Metab Dis 1982; 5: 125-127.
    • (1982) J Inherited Metab Dis , vol.5 , pp. 125-127
    • Duran, M.1    Bruinvis, L.2    Ketting, D.3
  • 173
    • 0021169299 scopus 로고
    • Hyperammonemia in a preterm infant with isovaleric acidemia
    • Wilson WG, Audenaert SM, Squillaro EJ: Hyperammonemia in a preterm infant with isovaleric acidemia. J Inherited Metab Dis 1984; 7: 71.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 71
    • WG, W.1    SM, A.2    EJ, S.3
  • 174
    • 84886613412 scopus 로고
    • Beta-methyl crotonic aciduria associated with lactic acidosis
    • Roth K., Cohn R., Yandrasitz J., et al: Beta-methyl crotonic aciduria associated with lactic acidosis. J Pediatrics 1976; 88: 229-235.
    • (1976) J Pediatrics , vol.88 , pp. 229-235
    • Roth, K.1    Cohn, R.2    Yandrasitz, J.3
  • 175
    • 0019364785 scopus 로고
    • Inherited disorders of 3-methylcrotonyl CoA carboxylation
    • Leonard JV, Seakins Jwt, Bartlett K., et al: Inherited disorders of 3-methylcrotonyl CoA carboxylation. Arch Dis Child 1981; 56: 53-59.
    • (1981) Arch Dis Child , vol.56 , pp. 53-59
    • JV, L.1    Jwt, S.2    Bartlett, K.3
  • 176
    • 0021713006 scopus 로고
    • Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia
    • Bartlett K., Bennett MJ, Hill RP, et al: Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia. J Inherited Metab Dis 1984;7: 182.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 182
    • Bartlett, K.1    MJ, B.2    RP, H.3
  • 177
    • 0019950607 scopus 로고
    • Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs
    • Beemer FA, Bartlett K., Duran M., et al: Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs. Eur J Pediatr 1982; 138: 351-354.
    • (1982) Eur J Pediatr , vol.138 , pp. 351-354
    • FA, B.1    Bartlett, K.2    Duran, M.3
  • 178
    • 0000732986 scopus 로고
    • Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia, and ketoacidosis
    • Suppl 2
    • Gitzelmann R., Steinmann B., Niederwieser A., et al: Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia, and ketoacidosis. J Inherited Metab Dis 1987;10(Suppl 2):290-292.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 290-292
    • Gitzelmann, R.1    Steinmann, B.2    Niederwieser, A.3
  • 179
    • 0018120404 scopus 로고
    • 3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy
    • Greter J., Hagberg B., Steen G., Soderhjelm U.: 3-Methylglutaconic aciduria: Report on a sibship with infantile progressive encephalopathy. Eur J Pediatr 1978; 129: 231-238.
    • (1978) Eur J Pediatr , vol.129 , pp. 231-238
    • Greter, J.1    Hagberg, B.2    Steen, G.3    Soderhjelm, U.4
  • 180
    • 0023573922 scopus 로고
    • Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria
    • Haan EA, Scholem RD, Pitt JJ, et al: Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria. Eur J Pediatr 1987; 146: 484-488.
    • (1987) Eur J Pediatr , vol.146 , pp. 484-488
    • EA, H.1    RD, S.2    JJ, P.3
  • 181
  • 182
    • 0021965619 scopus 로고
    • 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency
    • Lehnert W., Schard J., Wendel U.: 3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency. Eur J Pediatr 1985; 143: 301-303.
    • (1985) Eur J Pediatr , vol.143 , pp. 301-303
    • Lehnert, W.1    Schard, J.2    Wendel, U.3
  • 183
    • 84970179675 scopus 로고    scopus 로고
    • 3-Hydroxy-3-methylglutaryl CoA (HMG CoA) lyase deficiency in Saudi Arabia
    • in press
    • Ozand PT, Al Aqeel A., Gascon G., et al: 3-Hydroxy-3-methylglutaryl CoA (HMG CoA) lyase deficiency in Saudi Arabia. J Inherited Metab Dis, in press.
    • J Inherited Metab Dis
    • PT, O.1    Al Aqeel, A.2    Gascon, G.3
  • 184
    • 0024260942 scopus 로고
    • 3-Hydroxy-3-methyl glutaryl coenzyme A lyase deficiency: Review of 18 reported patients
    • Gibson KM, Breuer J., Nyhan WL: 3-Hydroxy-3-methyl glutaryl coenzyme A lyase deficiency: Review of 18 reported patients. Eur J Pediatr 1988; 148: 180-186.
    • (1988) Eur J Pediatr , vol.148 , pp. 180-186
    • KM, G.1    Breuer, J.2    WL, N.3
  • 186
    • 0021018139 scopus 로고
    • A case of β-ketothiolase deficiency
    • Bennett MJ, Littlewood JM, MacDonald A., et al: A case of β-ketothiolase deficiency. J Inherited Metab Dis 1983; 6: 157.
    • (1983) J Inherited Metab Dis , vol.6 , pp. 157
    • MJ, B.1    JM, L.2    MacDonald, A.3
  • 187
    • 0015861755 scopus 로고
    • An inherited disorder of isoleucine catabolism causing accumulation of α-methylacetoacetate, and α-methyl-β hydroxybutyrate, and inter mittent metabolic acidosis
    • Daum RS, Scriver CR, Mamer OA, et al: An inherited disorder of isoleucine catabolism causing accumulation of α-methylacetoacetate, and α-methyl-β hydroxybutyrate, and inter mittent metabolic acidosis. Pediatr Res 1973;7: 149-160.
    • (1973) Pediatr Res , vol.7 , pp. 149-160
    • RS, D.1    CR, S.2    OA, M.3
  • 188
    • 0018329785 scopus 로고
    • A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria
    • Halvorsen S., Stokke O., Jellum E.: A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria. Acta Paediatr Scand 1979; 68: 123-128.
    • (1979) Acta Paediatr Scand , vol.68 , pp. 123-128
    • Halvorsen, S.1    Stokke, O.2    Jellum, E.3
  • 189
    • 0021207441 scopus 로고
    • Two cases of β-ketothiolase deficiency: A comparison
    • Suppl 2
    • Middleton B., Gray Rgf, Bennett MJ: Two cases of β-ketothiolase deficiency: A comparison. J Inherited Metab Dis 1984; 7(Suppl 2):131-132.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 131-132
    • Middleton, B.1    Rgf, G.2    MJ, B.3
  • 190
    • 0016277017 scopus 로고
    • A defect in L-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methyl acetoacetic aciduria: Quantitative in vivo and in vitro studies
    • Gompertz D., Saudubray JM, Charpentier C., et al: A defect in L-isoleucine metabolism associated with α-methyl-β-hydroxybutyric and α-methyl acetoacetic aciduria: Quantitative in vivo and in vitro studies. Clin Chim Acta 1974; 57: 269-281.
    • (1974) Clin Chim Acta , vol.57 , pp. 269-281
    • Gompertz, D.1    JM, S.2    Charpentier, C.3
  • 191
    • 0015923096 scopus 로고
    • Newborn screening for metabolic disorders
    • Levy HL: Newborn screening for metabolic disorders. N Engl J Med 1973; 288: 1299.
    • (1973) N Engl J Med , vol.288 , pp. 1299
    • HL, L.1
  • 192
    • 0019778269 scopus 로고
    • Propionic acidemia: A clinical update
    • Wolf B., Hsia YE, Sweetman L., et al: Propionic acidemia: A clinical update. J Pediatr 1981; 99: 835-846.
    • (1981) J Pediatr , vol.99 , pp. 835-846
    • Wolf, B.1    YE, H.2    Sweetman, L.3
  • 193
    • 0021083332 scopus 로고
    • Propionic acidaemia. First case in the Finnish population
    • Wendt LV, Simila S., Ruostesuo J., et al: Propionic acidaemia. First case in the Finnish population. Ann Clin Res 1983; 15: 194-196.
    • (1983) Ann Clin Res , vol.15 , pp. 194-196
    • LV, W.1    Simila, S.2    Ruostesuo, J.3
  • 194
    • 0018358111 scopus 로고
    • Human propionyl CoA carboxylase: Some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia
    • Hsia YE, Scully KJ, Rosenberg LE: Human propionyl CoA carboxylase: Some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia. Pediatr Res 1979; 13: 746-751.
    • (1979) Pediatr Res , vol.13 , pp. 746-751
    • YE, H.1    KJ, S.2    LE, R.3
  • 195
    • 0024334931 scopus 로고
    • Parenteral nutrition in propionic and methylmalonic acidemia
    • Kahler SG, Millington DS, Cederbaum SD, et al: Parenteral nutrition in propionic and methylmalonic acidemia. J Pediatr 1989; 115: 235-241.
    • (1989) J Pediatr , vol.115 , pp. 235-241
    • SG, K.1    DS, M.2    SD, C.3
  • 196
    • 0016045193 scopus 로고
    • Propionicacidemia (ketotic hyperglycinemia): Dietary treatment resulting in normal growth and development
    • Brandt IK, Hsia YE, Clement DH, Provence SA: Propionicacidemia (ketotic hyperglycinemia): Dietary treatment resulting in normal growth and development. Pediatrics 1974; 3: 391-395.
    • (1974) Pediatrics , vol.3 , pp. 391-395
    • IK, B.1    YE, H.2    DH, C.3    SA, P.4
  • 197
    • 9444261813 scopus 로고
    • Further observations of a patient with hyperglycinemia
    • Childs B., Nyhan WL: Further observations of a patient with hyperglycinemia. Pediatrics 1964; 33: 403-412.
    • (1964) Pediatrics , vol.33 , pp. 403-412
    • Childs, B.1    WL, N.2
  • 198
    • 0015065031 scopus 로고
    • Propionic acidemia in patients with ketotic hyperglycinemia
    • Ando T., Rasmussen K., Nyhan WL, et al: Propionic acidemia in patients with ketotic hyperglycinemia. J Pediatr 1971; 78: 827-832.
    • (1971) J Pediatr , vol.78 , pp. 827-832
    • Ando, T.1    Rasmussen, K.2    WL, N.3
  • 199
    • 0014326756 scopus 로고
    • Methylmalonic acidemia: A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia
    • Lindblad B., Lindblad BS, Olin P., et al: Methylmalonic acidemia: A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia. Acta Paediatr Scand 1968; 57: 417-424.
    • (1968) Acta Paediatr Scand , vol.57 , pp. 417-424
    • Lindblad, B.1    BS, L.2    Olin, P.3
  • 200
    • 0014412816 scopus 로고
    • A-Ch, Hsia YE: Methylmalonic aciduria: An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia
    • Rosenberg LE, Lilljeqvist A-Ch, Hsia YE: Methylmalonic aciduria: An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia. N Engl J Med 1968; 278: 1319-1322.
    • (1968) N Engl J Med , vol.278 , pp. 1319-1322
    • Rosenberg LE, L.1
  • 201
    • 0015591457 scopus 로고
    • Response to dietary therapy in B12 unresponsive methylmalonic acidemia
    • Nyhan WL, Fawcett N., Ando T., et al: Response to dietary therapy in B12 unresponsive methylmalonic acidemia. Pediatrics 1973; 51: 539-548.
    • (1973) Pediatrics , vol.51 , pp. 539-548
    • WL, N.1    Fawcett, N.2    Ando, T.3
  • 202
    • 0019522125 scopus 로고
    • Dietary therapy in two patients with vitamin B12-unresponsive methlymalonic acidemia
    • Satoh T., Narisawa K., Igarashi Y., et al: Dietary therapy in two patients with vitamin B12-unresponsive methlymalonic acidemia. Eur J Pediatr 1981;135: 305-312.
    • (1981) Eur J Pediatr , vol.135 , pp. 305-312
    • Satoh, T.1    Narisawa, K.2    Igarashi, Y.3
  • 203
    • 0019792634 scopus 로고
    • Mutant holocarboxylase synthetase
    • Burri BJ, Sweetman L., Nyhan WL: Mutant holocarboxylase synthetase. J Clin Invest 1981; 68: 1491-1495.
    • (1981) J Clin Invest , vol.68 , pp. 1491-1495
    • BJ, B.1    Sweetman, L.2    WL, N.3
  • 204
    • 0018892702 scopus 로고
    • Holocarboxylase synthetase deficiency: A biotin responsive organic acidemia
    • Roth KS, Yang W., Foreman JW, et al: Holocarboxylase synthetase deficiency: A biotin responsive organic acidemia. J Pediatr 1980; 96: 845-849.
    • (1980) J Pediatr , vol.96 , pp. 845-849
    • KS, R.1    Yang, W.2    JW, F.3
  • 205
    • 0019826363 scopus 로고
    • The neonatal form of biotin responsive multiple carboxylase deficiency
    • Packman S., Sweetman L., Baker H., Wall S.: The neonatal form of biotin responsive multiple carboxylase deficiency. J Pediatr 1981; 99: 418-420.
    • (1981) J Pediatr , vol.99 , pp. 418-420
    • Packman, S.1    Sweetman, L.2    Baker, H.3    Wall, S.4
  • 206
    • 0019994639 scopus 로고
    • Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset
    • Sherwood WW, Saunders M., Robinson BH, et al: Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. J Pediatr 1982; 101: 546-550.
    • (1982) J Pediatr , vol.101 , pp. 546-550
    • WW, S.1    Saunders, M.2    BH, R.3
  • 207
    • 0019440979 scopus 로고
    • Multiple carboxylase deficiency: Clinical and biochemical improvement following neonatal biotin treatment
    • Wolf B., Hsia YE, Sweetman L., et al: Multiple carboxylase deficiency: Clinical and biochemical improvement following neonatal biotin treatment. Pediatrics 1981; 68: 113-118.
    • (1981) Pediatrics , vol.68 , pp. 113-118
    • Wolf, B.1    YE, H.2    Sweetman, L.3
  • 208
    • 0014833821 scopus 로고
    • Biotin-responsive propionicacidaemia
    • Barnes ND, Hull D., Balgobin L., Gompertz D.: Biotin-responsive propionicacidaemia. Lancet 1970; 2: 244-245.
    • (1970) Lancet , vol.2 , pp. 244-245
    • ND, B.1    Hull, D.2    Balgobin, L.3    Gompertz, D.4
  • 209
    • 0022262194 scopus 로고
    • Biotinidase deficiency: A novel vitamin recycling defect
    • Suppl 1
    • Wolf B., Grier RE, McVoy Jcs, Heard GS: Biotinidase deficiency: A novel vitamin recycling defect. J Inherited Metab Dis 1985; 8(Suppl 1):53-58.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 53-58
    • Wolf, B.1    RE, G.2    Jcs, M.3    GS, H.4
  • 210
    • 0022386748 scopus 로고
    • Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency
    • Suppl 2
    • Greter J., Holme E., Lindstedt S., Koivikko M.: Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency. J Inherited Metab Dis 1985; 8(Suppl 2):103-104.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 103-104
    • Greter, J.1    Holme, E.2    Lindstedt, S.3    Koivikko, M.4
  • 211
    • 0020961510 scopus 로고
    • Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria
    • Swick HM, Kien CL: Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria. J Pediatr 1983; 103: 265-267.
    • (1983) J Pediatr , vol.103 , pp. 265-267
    • HM, S.1    CL, K.2
  • 212
    • 0018748095 scopus 로고
    • Biotin-responsive alopecia and developmental regression
    • Charles BM, Hosking G., Green A., et al: Biotin-responsive alopecia and developmental regression. Lancet 1979; 2: 118-120.
    • (1979) Lancet , vol.2 , pp. 118-120
    • BM, C.1    Hosking, G.2    Green, A.3
  • 213
    • 0015209274 scopus 로고
    • Biotin-responsive beta-methylcrotonylglycinuria
    • Gompertz D., Daffan GH, Watts JL, Hull D.: Biotin-responsive beta-methylcrotonylglycinuria. Lancet 1971;2: 22-24.
    • (1971) Lancet , vol.2 , pp. 22-24
    • Gompertz, D.1    GH, D.2    JL, W.3    Hull, D.4
  • 214
    • 0021108250 scopus 로고
    • Deficient biotinidase activity in late-onset multiple carboxylase deficiency
    • Wolf B., Grier RE, Parker WD, et al: Deficient biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med 1983; 308: 161.
    • (1983) N Engl J Med , vol.308 , pp. 161
    • Wolf, B.1    RE, G.2    WD, P.3
  • 215
    • 0021095483 scopus 로고
    • Mitochondrial 2-oxoacid dehydrogenase complexes of animal tissues
    • Biol
    • Randle PJ: Mitochondrial 2-oxoacid dehydrogenase complexes of animal tissues. Philos Trans R Soc Lond [Biol] 1983; 302: 47-57.
    • (1983) Philos Trans R Soc Lond , vol.302 , pp. 47-57
    • PJ, R.1
  • 216
    • 0022355682 scopus 로고
    • The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect
    • Suppl 2
    • Bennett MJ, Gray Rgf, Isherwood DM, et al: The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect. J Inherited Metab Dis 1985; 8(Suppl 2):135-136.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 135-136
    • MJ, B.1    Rgf, G.2    DM, I.3
  • 217
    • 0017768221 scopus 로고
    • New defect in fatty-acid metabolism with hypoglycaemia and organic aciduria
    • Tanaka K., Mantagos S., Genel M., et al: New defect in fatty-acid metabolism with hypoglycaemia and organic aciduria. Lancet 1977; 2: 986.
    • (1977) Lancet , vol.2 , pp. 986
    • Tanaka, K.1    Mantagos, S.2    Genel, M.3
  • 218
    • 0023488951 scopus 로고
    • New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency
    • Stanley CA: New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Pediatr 1987; 34: 59-88.
    • (1987) Adv Pediatr , vol.34 , pp. 59-88
    • CA, S.1
  • 219
    • 84936297788 scopus 로고
    • Regional cerebral Na+-K+ ATPase activity following octanoate administration
    • Trauner D.: Regional cerebral Na+-K+ ATPase activity following octanoate administration. Pediatr Res 1982;16: 881-887.
    • (1982) Pediatr Res , vol.16 , pp. 881-887
    • Trauner, D.1
  • 220
    • 0021795143 scopus 로고
    • Defects of metabolism of fatty acids in the sudden infant death syndrome
    • Howat AJ, Bennett MJ, Variend S.: Defects of metabolism of fatty acids in the sudden infant death syndrome. Br Med J 1985; 290: 1771-1773.
    • (1985) Br Med J , vol.290 , pp. 1771-1773
    • AJ, H.1    MJ, B.2    Variend, S.3
  • 221
    • 0023850314 scopus 로고
    • Acylcoenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in the liver
    • Allison F., Bennett MJ, Variend S., Engel PC: Acylcoenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in the liver. Br Med J 1988; 296: 11-12.
    • (1988) Br Med J , vol.296 , pp. 11-12
    • Allison, F.1    MJ, B.2    Variend, S.3    PC, E.4
  • 222
    • 0021082419 scopus 로고
    • Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect
    • Divry P., David M., Gregersen N., et al: Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. Acta Paediatr Scand 1983; 72: 943-949.
    • (1983) Acta Paediatr Scand , vol.72 , pp. 943-949
    • Divry, P.1    David, M.2    Gregersen, N.3
  • 223
    • 0019186057 scopus 로고
    • Intermittent nonketotic dicarboxylic aciduria in two siblings with hypoglycaemia: An apparent defect in beta-oxidation of fatty acids
    • Naylor EW, Mosovich LL, Guthrie R.: Intermittent nonketotic dicarboxylic aciduria in two siblings with hypoglycaemia: An apparent defect in beta-oxidation of fatty acids. J Inherited Metab Dis 1980; 3: 19-24.
    • (1980) J Inherited Metab Dis , vol.3 , pp. 19-24
    • EW, N.1    LL, M.2    Guthrie, R.3
  • 224
    • 0021053314 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
    • Stanley CA, Hale DE, Coates PM, et al: Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res 1983; 11: 877-884.
    • (1983) Pediatr Res , vol.11 , pp. 877-884
    • CA, S.1    DE, H.2    PM, C.3
  • 225
    • 34250102375 scopus 로고
    • Biochemical studies on cultured skin fibroblasts from a baby with long-chain acyl-CoA dehydrogenase deficiency presenting as sudden neonatal death
    • Suppl 2
    • Chalmers RA, English N., Hughes EA, et al: Biochemical studies on cultured skin fibroblasts from a baby with long-chain acyl-CoA dehydrogenase deficiency presenting as sudden neonatal death. J Inherited Metab Dis 1987; 10(Suppl 2):260-262.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 260-262
    • RA, C.1    English, N.2    EA, H.3
  • 226
    • 0022996369 scopus 로고
    • Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical, pathologic and ultrastructural differentiation from Reye's syndrome
    • Teem WR, Witzleben CA, Piccoli DA, et al: Medium-chain and long-chain acyl CoA dehydrogenase deficiency: Clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology 1986; 6: 1270-1278.
    • (1986) Hepatology , vol.6 , pp. 1270-1278
    • WR, T.1    CA, W.2    DA, P.3
  • 227
    • 0023616609 scopus 로고
    • Glutaric aciduria type 1: Clinical heterogeneity and neuroradiologic features
    • Amir N., El-Peleg O., Shalev RS, Christensen E.: Glutaric aciduria type 1: Clinical heterogeneity and neuroradiologic features. Neurology 1987; 37: 1654-1657.
    • (1987) Neurology , vol.37 , pp. 1654-1657
    • Amir, N.1    El-Peleg, O.2    RS, S.3    Christensen, E.4
  • 228
    • 0017726943 scopus 로고
    • Intermittently progressive dyskinetic syndrome in glutaric aciduria
    • Kyllerman JM, Steen G.: Intermittently progressive dyskinetic syndrome in glutaric aciduria. Neuropaediatrie 1977;8: 397-404.
    • (1977) Neuropaediatrie , vol.8 , pp. 397-404
    • JM, K.1    Steen, G.2
  • 229
    • 0021934045 scopus 로고
    • Glutaric aciduria type 1 misdiagnosed as Leigh's encephalopathy and cerebral palsy
    • Stutchfield P., Edwards MA, Gray Rgf, et al: Glutaric aciduria type 1 misdiagnosed as Leigh's encephalopathy and cerebral palsy. Dev Med Child Neurol 1985; 27: 514-518.
    • (1985) Dev Med Child Neurol , vol.27 , pp. 514-518
    • Stutchfield, P.1    MA, E.2    Rgf, G.3
  • 230
    • 0024558977 scopus 로고
    • Acute profound dystonia in infants with glutaric acidemia
    • Bergman I., Finegold D., Gartner C., et al: Acute profound dystonia in infants with glutaric acidemia. Pediatrics 1989; 83: 229-233.
    • (1989) Pediatrics , vol.83 , pp. 229-233
    • Bergman, I.1    Finegold, D.2    Gartner, C.3
  • 231
    • 0019120250 scopus 로고
    • Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis
    • Leibel RL, Shih VE, Goodman SI, et al: Glutaric acidemia: A metabolic disorder causing progressive choreoathetosis. Neurology 1980; 30: 1163-1168.
    • (1980) Neurology , vol.30 , pp. 1163-1168
    • RL, L.1    VE, S.2    SI, G.3
  • 232
    • 0017349056 scopus 로고
    • Glutaric aciduria: Clinical and laboratory findings in two brothers
    • Gregersen N., Brandt NJ, Christensen E.: Glutaric aciduria: Clinical and laboratory findings in two brothers. J Pediatr 1977; 90: 740-745.
    • (1977) J Pediatr , vol.90 , pp. 740-745
    • Gregersen, N.1    NJ, B.2    Christensen, E.3
  • 233
    • 0024261514 scopus 로고
    • CT-scan findings in an infant with glutaric aciduria type 1
    • Yager JY, McClarty BM, Seshia SS: CT-scan findings in an infant with glutaric aciduria type 1. Dev Med Child Neurol 1988; 30: 808-820.
    • (1988) Dev Med Child Neurol , vol.30 , pp. 808-820
    • JY, Y.1    BM, M.2    SS, S.3
  • 234
    • 84934992404 scopus 로고
    • A new form of glutaric acidemia type II (GA2) (abstract)
    • Loehr JP, Frerman FE, Goodman SI: A new form of glutaric acidemia type II (GA2) (abstract). Pediatr Res 1987; 21: 291A.
    • (1987) Pediatr Res , vol.21 , pp. 291A
    • JP, L.1    FE, F.2    SI, G.3
  • 235
    • 0019825966 scopus 로고
    • Neonatal glutaric aciduria type III: An X-linked recessive inherited disorder
    • Coude FX, Ogier H., Charpentier C., et al: Neonatal glutaric aciduria type III: An X-linked recessive inherited disorder. Hum Genet 1981; 59: 263-265.
    • (1981) Hum Genet , vol.59 , pp. 263-265
    • FX, C.1    Ogier, H.2    Charpentier, C.3
  • 236
    • 0023700730 scopus 로고
    • Glutaric acidemia type II: Comparison of pathologic features in two infants
    • Colevas AD, Edwards JL, Hruban RH, et al: Glutaric acidemia type II: Comparison of pathologic features in two infants. Arch Pathol Lab Med 1988; 112: 1133-1139.
    • (1988) Arch Pathol Lab Med , vol.112 , pp. 1133-1139
    • AD, C.1    JL, E.2    RH, H.3
  • 237
  • 238
    • 0020064334 scopus 로고
    • Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations
    • Goodman SI, Stene DO, McCabe Erb, et al: Glutaric acidemia type II: Clinical, biochemical, and morphologic considerations. J Pediatr 1982; 100: 946-950.
    • (1982) J Pediatr , vol.100 , pp. 946-950
    • SI, G.1    DO, S.2    Erb, M.3
  • 239
    • 0019953516 scopus 로고
    • Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers
    • Bohm N., Uy J., Kiebling M., Lehnert W.: Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. Eur J Pediatr 1982; 139: 60-65.
    • (1982) Eur J Pediatr , vol.139 , pp. 60-65
    • Bohm, N.1    Uy, J.2    Kiebling, M.3    Lehnert, W.4
  • 240
    • 0019314118 scopus 로고
    • Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II
    • Gregersen N., Kolvraa S., Rasmussen K., et al: Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: Another possible case of glutaric aciduria type II. J Inherited Metab Dis 1980; 3: 67-72.
    • (1980) J Inherited Metab Dis , vol.3 , pp. 67-72
    • Gregersen, N.1    Kolvraa, S.2    Rasmussen, K.3
  • 241
    • 0018641568 scopus 로고
    • Ethylmalonic-adipic aciduria: In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases
    • Mantagos S., Genel M., Tanaka K.: Ethylmalonic-adipic aciduria: In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases. J Clin Invest 1979;64: 1580-1589.
    • (1979) J Clin Invest , vol.64 , pp. 1580-1589
    • Mantagos, S.1    Genel, M.2    Tanaka, K.3
  • 242
    • 0021829147 scopus 로고
    • Riboflavin-responsive ethylmalonic-adipic aciduria
    • Green A., Marshall TG, Bennett MJ, et al: Riboflavin-responsive ethylmalonic-adipic aciduria. J Inherited Metab Dis 1985; 8: 67-70.
    • (1985) J Inherited Metab Dis , vol.8 , pp. 67-70
    • Green, A.1    TG, M.2    MJ, B.3
  • 243
    • 0021126453 scopus 로고
    • Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally
    • Bennett MJ, Curnock DA, Engel PC, et al: Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally. J Inherited Metab Dis 1984; 7: 57-61.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 57-61
    • MJ, B.1    DA, C.2    PC, E.3
  • 244
    • 0021135951 scopus 로고
    • Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)
    • Suppl 1
    • Goodman SI, Frerman FE: Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency). J Inherited Metab Dis 1984; 7(Suppl 1):33-37.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 33-37
    • SI, G.1    FE, F.2
  • 245
    • 0021687124 scopus 로고
    • Glutaric aciduria type II: Treatment with riboflavin, carnitine and insulin
    • Mooy PD, Przyrembel H., Giesberts Mah, et al: Glutaric aciduria type II: Treatment with riboflavin, carnitine and insulin. Eur J Pediatr 1984; 143: 92-95.
    • (1984) Eur J Pediatr , vol.143 , pp. 92-95
    • PD, M.1    Przyrembel, H.2    Mah, G.3
  • 246
    • 0020001119 scopus 로고
    • C6-C10-Dicarboxylic aciduria: Investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects
    • Gregersen N., Witzensen H., Kolvraa S., et al: C6-C10-Dicarboxylic aciduria: Investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. Pediatr Res 1982; 16: 861-868.
    • (1982) Pediatr Res , vol.16 , pp. 861-868
    • Gregersen, N.1    Witzensen, H.2    Kolvraa, S.3
  • 247
    • 0019885307 scopus 로고
    • Acetyl CoA carboxylase deficiency: An inborn error of de novo fatty acid synthesis
    • Blom W., de Munick Keizer Smpf, Stolte HR: Acetyl CoA carboxylase deficiency: An inborn error of de novo fatty acid synthesis. N Engl J Med 1981; 305: 465-466.
    • (1981) N Engl J Med , vol.305 , pp. 465-466
    • Blom, W.1    de Munick Keizer, S.2    HR, S.3
  • 248
    • 0022347689 scopus 로고
    • Mevalonic aciduria: An inborn error of cholesterol biosynthesis?
    • Berger R., Smit Gpa, Schierbeek H., et al: Mevalonic aciduria: An inborn error of cholesterol biosynthesis? Clin Chim Acta 1985; 152: 219-222.
    • (1985) Clin Chim Acta , vol.152 , pp. 219-222
    • Berger, R.1    Gpa, S.2    Schierbeek, H.3
  • 249
    • 0017732398 scopus 로고
    • A patient with severe neurological symptoms and acetoacetyl-CoA thiolase deficiency
    • De Groot CJ, Liut-de-Hann G., Hulstaeit CE, Hommes FA: A patient with severe neurological symptoms and acetoacetyl-CoA thiolase deficiency. Pediatr Res 1977; 11: 1112-1116.
    • (1977) Pediatr Res , vol.11 , pp. 1112-1116
    • De Groot, C.J.1    Liut-de-Hann, G.2    CE, H.3    FA, H.4
  • 250
    • 0018939283 scopus 로고
    • The genetic heterogeneity of lacticacidosis: Occurrence of recognizable inborn error of metabolism in a pediatric population with lacticacidosis
    • Robinson BH, Taylor J., Sherwood WG: The genetic heterogeneity of lacticacidosis: Occurrence of recognizable inborn error of metabolism in a pediatric population with lacticacidosis. Pediatr Res 1980; 14: 956-962.
    • (1980) Pediatr Res , vol.14 , pp. 956-962
    • BH, R.1    Taylor, J.2    WG, S.3
  • 251
    • 84970101912 scopus 로고
    • Variable tissue expression of pyruvate dehydrogenase complex deficiency associated with a point mutation in the coding region of the E1-alpha subunit
    • Vth International Congress of Inborn Errors of Metabolism Abst OC12.4
    • Wexler ID, Hemelatha SG, Liu T-C., et al: Variable tissue expression of pyruvate dehydrogenase complex deficiency associated with a point mutation in the coding region of the E1-alpha subunit. Vth International Congress of Inborn Errors of Metabolism. 1990, Abst OC12.4.
    • (1990)
    • ID, W.1    SG, H.2    Liu, T-C.3
  • 252
    • 0023030955 scopus 로고
    • Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase
    • Wicking CA, Scholem RD, Hunt SM, Brown GK: Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. Biochem J 1986; 239: 89-96.
    • (1986) Biochem J , vol.239 , pp. 89-96
    • CA, W.1    RD, S.2    SM, H.3    GK, B.4
  • 253
    • 0016724576 scopus 로고
    • Pyruvate dehydrogenase phosphatase deficiency. A cause of congenital chronic lactic acidosis in infancy
    • Robinson BH, Sherwood WG: Pyruvate dehydrogenase phosphatase deficiency. A cause of congenital chronic lactic acidosis in infancy. Pediatr Res 1975; 9: 935-939.
    • (1975) Pediatr Res , vol.9 , pp. 935-939
    • BH, R.1    WG, S.2
  • 254
    • 0017191458 scopus 로고
    • A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency
    • Reynolds SF, Blass JP: A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency. Neurology 1976; 26: 625-628.
    • (1976) Neurology , vol.26 , pp. 625-628
    • SF, R.1    JP, B.2
  • 255
    • 0023245015 scopus 로고
    • The human pyruvate dehydrogenase complex: Isolation of cDNA clones for the E1 α-subunit, sequence analysis, and characterization of the mRNA
    • Dahl H-Hm, Hunt SM, Hutchison WM, Brown GK: The human pyruvate dehydrogenase complex: Isolation of cDNA clones for the E1 α-subunit, sequence analysis, and characterization of the mRNA. J Biol Chem 1987; 262: 7398-7403,
    • (1987) J Biol Chem , vol.262 , pp. 7398-7403
    • Dahl, H.-H.1    SM, H.2    WM, H.3    GK, B.4
  • 256
    • 0016870613 scopus 로고
    • Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase
    • Stromme JH, Borud O., Moe PJ: Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase. Pediatr Res 1976;10: 60-66.
    • (1976) Pediatr Res , vol.10 , pp. 60-66
    • JH, S.1    Borud, O.2    PJ, M.3
  • 257
    • 0022636856 scopus 로고
    • Lactic-acidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme
    • McKay N., Petrova-Benedict R., Thoene J., et al: Lactic-acidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the α-subunit of the enzyme. Eur J Pediatr 1986; 144: 445-450.
    • (1986) Eur J Pediatr , vol.144 , pp. 445-450
    • McKay, N.1    Petrova-Benedict, R.2    Thoene, J.3
  • 258
    • 0023501971 scopus 로고
    • Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency
    • Brown GK, Scholem RD, Hunt SM, et al: Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency. J Inherited Metab Dis 1987; 10: 359-366.
    • (1987) J Inherited Metab Dis , vol.10 , pp. 359-366
    • GK, B.1    RD, S.2    SM, H.3
  • 259
    • 0022246207 scopus 로고
    • Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: Responses to dichloroacetate and benzoate
    • McCormick K., Viscardi RM, Robinson B., Heininger J.: Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: Responses to dichloroacetate and benzoate. Am J Med Genet 1985; 22: 291-299.
    • (1985) Am J Med Genet , vol.22 , pp. 291-299
    • McCormick, K.1    RM, V.2    Robinson, B.3    Heininger, J.4
  • 260
    • 0020039747 scopus 로고
    • Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy
    • Hansen TL, Christensen E., Brandt NJ: Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy. Acta Paediatr Scand 1982; 71: 263-267.
    • (1982) Acta Paediatr Scand , vol.71 , pp. 263-267
    • TL, H.1    Christensen, E.2    NJ, B.3
  • 262
    • 0020039890 scopus 로고
    • Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency
    • Toshima K., Kuroda Y., Hashimoto T., et al: Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency. Pediatr Res 1982; 16: 430-435.
    • (1982) Pediatr Res , vol.16 , pp. 430-435
    • Toshima, K.1    Kuroda, Y.2    Hashimoto, T.3
  • 263
    • 0023136125 scopus 로고
    • Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease)
    • Kretzschmar HA, DeArmond SJ, Koch TK, et al: Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). Pediatrics 1987; 79: 370-373.
    • (1987) Pediatrics , vol.79 , pp. 370-373
    • HA, K.1    SJ, D.2    TK, K.3
  • 264
    • 0015158520 scopus 로고
    • Clinical studies of a patient with pyruvate decarboxylase deficiency
    • Blass JP, Kark Rap, Engel WK: Clinical studies of a patient with pyruvate decarboxylase deficiency. Arch Neurol 1971; 25: 449-461.
    • (1971) Arch Neurol , vol.25 , pp. 449-461
    • JP, B.1    Rap, K.2    WK, E.3
  • 265
    • 0018571911 scopus 로고
    • Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease)
    • DeVivo DC, Haymond MW, Obert KA, et al: Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol 1979; 6: 483-494.
    • (1979) Ann Neurol , vol.6 , pp. 483-494
    • DC, D.1    MW, H.2    KA, O.3
  • 266
    • 0020030011 scopus 로고
    • Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts
    • Sorbi S., Blass JP: Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology 1982; 32: 555-558.
    • (1982) Neurology , vol.32 , pp. 555-558
    • Sorbi, S.1    JP, B.2
  • 267
    • 0017190852 scopus 로고
    • D-Glyceric acidemia in a patient with chronic metabolic acidosis
    • Wadman SK, Duran M., Ketting D., et al: D-Glyceric acidemia in a patient with chronic metabolic acidosis. Clin Chim Acta 1976; 71: 477-484.
    • (1976) Clin Chim Acta , vol.71 , pp. 477-484
    • SK, W.1    Duran, M.2    Ketting, D.3
  • 268
    • 0022361375 scopus 로고
    • Pyruvate-carboxylase deficiency with urea cycle impairment
    • Greter J., Gustafsson J., Holme E.: Pyruvate-carboxylase deficiency with urea cycle impairment. Acta Paediatr Scand 1985; 74: 982-986.
    • (1985) Acta Paediatr Scand , vol.74 , pp. 982-986
    • Greter, J.1    Gustafsson, J.2    Holme, E.3
  • 269
    • 0021987577 scopus 로고
    • Prenatal diagnosis of pyruvate carboxylase deficiency
    • Robinson BH, Toone JR, Benedict RP, et al: Prenatal diagnosis of pyruvate carboxylase deficiency. Prenat Diagn 1985; 5: 67-71.
    • (1985) Prenat Diagn , vol.5 , pp. 67-71
    • BH, R.1    JR, T.2    RP, B.3
  • 270
    • 0017740868 scopus 로고
    • Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency
    • Biervliet Van Jpgm, Bruinvis L., vander Heiden C., et al: Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency. Dev Med Child Neurol 1977; 19: 392-401.
    • (1977) Dev Med Child Neurol , vol.19 , pp. 392-401
    • Van Jpgm, B.1    Bruinvis, L.2    vander Heiden, C.3
  • 271
    • 0017585593 scopus 로고
    • The clinical and biochemical implications of pyruvate carboxylase deficiency
    • DeVivo DC, Haymond MW, Leckie MP, et al: The clinical and biochemical implications of pyruvate carboxylase deficiency. J Clin Endocrinol Metab 1977; 45: 1281-1296.
    • (1977) J Clin Endocrinol Metab , vol.45 , pp. 1281-1296
    • DC, D.1    MW, H.2    MP, L.3
  • 272
    • 0018345721 scopus 로고
    • Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease
    • Atkin BM, Buist Nrm, Utter MF, et al: Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease. Pediatr Res 1979; 13: 109-116.
    • (1979) Pediatr Res , vol.13 , pp. 109-116
    • BM, A.1    Nrm, B.2    MF, U.3
  • 273
    • 0021067405 scopus 로고
    • A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling
    • Tsuchiyama A., Oyanagi K., Hirano S., et al: A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling. J Inherited Metab Dis 1983; 6: 85-88.
    • (1983) J Inherited Metab Dis , vol.6 , pp. 85-88
    • Tsuchiyama, A.1    Oyanagi, K.2    Hirano, S.3
  • 274
    • 28144441858 scopus 로고
    • Mitochondrial phosphoenolpyruvate carboxykinase deficiency in a child with lacticacidemia, hypotonia and failure to thrive (abstract)
    • Robinson BH, Taylor J., Kahler S.: Mitochondrial phosphoenolpyruvate carboxykinase deficiency in a child with lacticacidemia, hypotonia and failure to thrive (abstract). Am J Hum Genet 1979; 31: 60A.
    • (1979) Am J Hum Genet , vol.31 , pp. 60A
    • BH, R.1    Taylor, J.2    Kahler, S.3
  • 275
    • 0017258894 scopus 로고
    • Two cases of phosphoenolpyruvate carboxykinase deficiency
    • Hommes FA, Bendien K., Elema JD, et al: Two cases of phosphoenolpyruvate carboxykinase deficiency. Acta Paediatr Scand 1976; 65: 233-240.
    • (1976) Acta Paediatr Scand , vol.65 , pp. 233-240
    • FA, H.1    Bendien, K.2    JD, E.3
  • 276
    • 0017249130 scopus 로고
    • Gluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia
    • Vidnes J., Sovik O.: Gluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia. Acta Paediatr Scand 1976; 65: 307-312.
    • (1976) Acta Paediatr Scand , vol.65 , pp. 307-312
    • Vidnes, J.1    Sovik, O.2
  • 277
    • 0022534603 scopus 로고
    • Fumarase deficiency: A new cause of mitochondrial encephalomyopathy
    • Zinn AB, Kerr DS, Hoppel CL: Fumarase deficiency: A new cause of mitochondrial encephalomyopathy. N Engl J Med 1986; 315: 469-475.
    • (1986) N Engl J Med , vol.315 , pp. 469-475
    • AB, Z.1    DS, K.2    CL, H.3
  • 278
    • 0023175965 scopus 로고
    • Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing
    • Petrova-Benedict R., Robinson BH, Stacey TE, et al: Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing. Am J Hum Genet 1987; 40: 257-266.
    • (1987) Am J Hum Genet , vol.40 , pp. 257-266
    • Petrova-Benedict, R.1    BH, R.2    TE, S.3
  • 279
    • 0024430123 scopus 로고
    • A fourth case of fumarase deficiency
    • Walker V., Mills GA, Hall MA, et al: A fourth case of fumarase deficiency. J Inherited Metab Dis 1989; 12: 331-332.
    • (1989) J Inherited Metab Dis , vol.12 , pp. 331-332
    • Walker, V.1    GA, M.2    MA, H.3
  • 280
    • 0020080427 scopus 로고
    • A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria
    • Kohlschutter A., Behbehani A., Langenbeck U., et al: A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria. Eur J Pediatr 1982; 138: 32-37.
    • (1982) Eur J Pediatr , vol.138 , pp. 32-37
    • Kohlschutter, A.1    Behbehani, A.2    Langenbeck, U.3
  • 281
    • 0022487208 scopus 로고
    • Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia
    • Robinson BH, Ward J., Goodyer P., Baudet A.: Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia. J Clin Invest 1986; 77: 1422-1427.
    • (1986) J Clin Invest , vol.77 , pp. 1422-1427
    • BH, R.1    Ward, J.2    Goodyer, P.3    Baudet, A.4
  • 282
    • 0021062567 scopus 로고
    • A patient with lactic acidaemia and cytochrome oxidase deficiency
    • Suppl 2
    • Trijbels F., Sengers R., Monnens L., et al: A patient with lactic acidaemia and cytochrome oxidase deficiency. J Inherited Metab Dis 1983; 6(Suppl 2):127-128.
    • (1983) J Inherited Metab Dis , vol.6 , pp. 127-128
    • Trijbels, F.1    Sengers, R.2    Monnens, L.3
  • 283
    • 0021857695 scopus 로고
    • Fatal infantile cytochrome c oxidase deficiency: Decrease of immunologically detectable enzyme in muscle
    • Bresolin N., Zeviani M., Bonilla E., et al: Fatal infantile cytochrome c oxidase deficiency: Decrease of immunologically detectable enzyme in muscle. Neurology 1985; 35: 802-812.
    • (1985) Neurology , vol.35 , pp. 802-812
    • Bresolin, N.1    Zeviani, M.2    Bonilla, E.3
  • 284
    • 0020557211 scopus 로고
    • Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin
    • Boustany RN, Aprille JR, Halperin J., et al: Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. Ann Neurol 1983; 14: 462-470.
    • (1983) Ann Neurol , vol.14 , pp. 462-470
    • RN, B.1    JR, A.2    Halperin, J.3
  • 285
    • 0020619577 scopus 로고
    • A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia
    • Johnson MA, Turnbull DM, Dick DJ, Sherratt Hsa: A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. J Neurol Sci 1983; 60: 31-53.
    • (1983) J Neurol Sci , vol.60 , pp. 31-53
    • MA, J.1    DM, T.2    DJ, D.3    Hsa, S.4
  • 286
    • 0023084648 scopus 로고
    • Benign reversible muscle cytochrome c oxidase deficiency: A second case
    • Zeviani M., Peterson P., Servidei S., et al: Benign reversible muscle cytochrome c oxidase deficiency: A second case. Neurology 1987; 37: 64-67.
    • (1987) Neurology , vol.37 , pp. 64-67
    • Zeviani, M.1    Peterson, P.2    Servidei, S.3
  • 287
    • 0017659070 scopus 로고
    • Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue
    • Willems JL, Monnens Lah, Trijbels Jmf, et al: Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics 1977; 60: 850-857.
    • (1977) Pediatrics , vol.60 , pp. 850-857
    • JL, W.1    Lah, M.2    Jmf, T.3
  • 288
    • 0023429777 scopus 로고
    • Cytochrome c oxidase deficiency in Leigh syndrome
    • DiMauro S., Servidei S., Zeviani M., et al: Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987; 22: 498-506.
    • (1987) Ann Neurol , vol.22 , pp. 498-506
    • DiMauro, S.1    Servidei, S.2    Zeviani, M.3
  • 289
    • 0021929746 scopus 로고
    • Maternally inherited mitochondrial myopathy and myoclonic epilepsy
    • Rosing HS, Hopkins LC, Wallace DC, et al: Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 1985; 17: 228-237.
    • (1985) Ann Neurol , vol.17 , pp. 228-237
    • HS, R.1    LC, H.2    DC, W.3
  • 290
    • 0020613411 scopus 로고
    • Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency
    • Sasaki H., Kuzuhara S., Kanazawa I., et al: Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. Neurology 1983; 33: 1288-1293.
    • (1983) Neurology , vol.33 , pp. 1288-1293
    • Sasaki, H.1    Kuzuhara, S.2    Kanazawa, I.3
  • 291
    • 84909708046 scopus 로고
    • Autopsy case of myoclonic epilepsy and ragged-red fibers with cytochrome c oxidase deficiency: Evidence for a maternally inherited biochemical defect
    • Mendell JR, Barohn RJ, Yates AJ, et al: Autopsy case of myoclonic epilepsy and ragged-red fibers with cytochrome c oxidase deficiency: Evidence for a maternally inherited biochemical defect. Ann Neurol 1987; 22: 28.
    • (1987) Ann Neurol , vol.22 , pp. 28
    • JR, M.1    RJ, B.2    AJ, Y.3
  • 292
    • 0017602089 scopus 로고
    • Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia
    • Hart ZH, Chang C-H., Perrin Evd, et al: Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Arch Neurol 1977; 34: 180-185.
    • (1977) Arch Neurol , vol.34 , pp. 180-185
    • ZH, H.1    Chang, C-H.2    Evd, P.3
  • 293
    • 0022159104 scopus 로고
    • Mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS)
    • Kuriyama M., Igata A.: Mitochondrial encephalopathy, lactic acidosis, and strokelike syndrome (MELAS). Ann Neurol 1985; 18: 625-626.
    • (1985) Ann Neurol , vol.18 , pp. 625-626
    • Kuriyama, M.1    Igata, A.2
  • 294
    • 0021143782 scopus 로고
    • Mitochondrial myopathy encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S., et al: Mitochondrial myopathy encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann Neurol 1984; 16: 481-488.
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • SG, P.1    PC, P.2    DiMauro, S.3
  • 295
    • 0023877476 scopus 로고
    • Kearns-Sayre syndrome with muscle mitochondrial deletion
    • Lestienne P., Ponsot G.: Kearns-Sayre syndrome with muscle mitochondrial deletion. Lancet 1988; 1: 885.
    • (1988) Lancet , vol.1 , pp. 885
    • Lestienne, P.1    Ponsot, G.2
  • 296
    • 0015965839 scopus 로고
    • Pyroglutamic aciduria: Studies in an infant with chronic metabolic acidosis
    • Hagenfeldt L., Larsson A., Zetterstrom R.: Pyroglutamic aciduria: Studies in an infant with chronic metabolic acidosis. Acta Paediatr Scand 1974; 63: 1-8.
    • (1974) Acta Paediatr Scand , vol.63 , pp. 1-8
    • Hagenfeldt, L.1    Larsson, A.2    Zetterstrom, R.3
  • 297
    • 0016312857 scopus 로고
    • Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism
    • Larsson A., Zetterstrom R., Hagenfeldt L., et al: Pyroglutamic aciduria (5-oxoprolinuria), an inborn error in glutathione metabolism. Pediatr Res 1974; 8: 852-856.
    • (1974) Pediatr Res , vol.8 , pp. 852-856
    • Larsson, A.1    Zetterstrom, R.2    Hagenfeldt, L.3
  • 298
    • 0017129970 scopus 로고
    • Biochemical studies of erythrocytes in a patient with pyroglutamic acidemia (5-oxoprolinemia)
    • Marstein S., Jellum E., Halpern B., et al: Biochemical studies of erythrocytes in a patient with pyroglutamic acidemia (5-oxoprolinemia). N Engl J Med 1976; 295: 406-412.
    • (1976) N Engl J Med , vol.295 , pp. 406-412
    • Marstein, S.1    Jellum, E.2    Halpern, B.3
  • 299
    • 0020974404 scopus 로고
    • An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
    • Barth PG, Scholte HR, Berden JA, et al: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983; 62: 327-355.
    • (1983) J Neurol Sci , vol.62 , pp. 327-355
    • PG, B.1    HR, S.2    JA, B.3
  • 300
    • 0022589534 scopus 로고
    • Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect
    • Haan EA, Scholem RD, Croll HB, Brown GK: Malonyl coenzyme A decarboxylase deficiency. Clinical and biochemical findings in a second child with a more severe enzyme defect. Eur J Pediatr 1986; 144: 567-570.
    • (1986) Eur J Pediatr , vol.144 , pp. 567-570
    • EA, H.1    RD, S.2    HB, C.3    GK, B.4
  • 301
    • 0021248765 scopus 로고
    • A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor
    • Ginns EI, Barranger JA, McClean SW, et al: A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J Pediatr 1984; 104: 736-739.
    • (1984) J Pediatr , vol.104 , pp. 736-739
    • EI, G.1    JA, B.2    SW, M.3
  • 303
    • 0016432357 scopus 로고
    • Glycerol intolerance in a child with intermittent hypoglycemia
    • Maclaren NK, Cowles C., Ozand PT, et al: Glycerol intolerance in a child with intermittent hypoglycemia. J Pediatr 1975; 86: 43-49.
    • (1975) J Pediatr , vol.86 , pp. 43-49
    • NK, M.1    Cowles, C.2    PT, O.3
  • 304
    • 0001600636 scopus 로고
    • X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21
    • Patil SR, Bartley JA, Murray JC, et al: X-linked glycerol kinase, adrenal hypoplasia and myopathy maps at Xp21. Cytogenet Cell Genet 1985; 40: 720-721.
    • (1985) Cytogenet Cell Genet , vol.40 , pp. 720-721
    • SR, P.1    JA, B.2    JC, M.3
  • 305
    • 14044268584 scopus 로고
    • Glycerol kinase deficiency: A X-linked disorder associated with adrenal hypoplasia (abstract)
    • Bartley JA, Miller D., McCabe Erb: Glycerol kinase deficiency: A X-linked disorder associated with adrenal hypoplasia (abstract). Pediatr Res 1982; 16: 189A.
    • (1982) Pediatr Res , vol.16 , pp. 189A
    • JA, B.1    Miller, D.2    Erb, M.3
  • 306
    • 0019949561 scopus 로고
    • The concordance of X-linked glycerol kinase deficiency with X-linked adrenal hypoplasia in two families
    • Bartley JA, Miller DK, Hayford JT, McCabe Erb: The concordance of X-linked glycerol kinase deficiency with X-linked adrenal hypoplasia in two families. Lancet 1982: 2: 733-736.
    • (1982) Lancet , vol.2 , pp. 733-736
    • JA, B.1    DK, M.2    JT, H.3    Erb, M.4
  • 307
    • 84970234731 scopus 로고
    • Glyceroluria, psychomotor retardation, spasticity, dystrophic myopathy and osteoporosis in a sibship
    • McCabe Erb, Guggenheim MA, Fennessey PV, et al: Glyceroluria, psychomotor retardation, spasticity, dystrophic myopathy and osteoporosis in a sibship. Pediatr Res 1977; 11: 935.
    • (1977) Pediatr Res , vol.11 , pp. 935
    • Erb, M.1    MA, G.2    PV, F.3
  • 308
    • 0023188622 scopus 로고
    • Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency
    • Wise JE, Matalon R., Morgan Jam, McCabe Erb: Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. Am J Dis Child 1987; 141: 744-747.
    • (1987) Am J Dis Child , vol.141 , pp. 744-747
    • JE, W.1    Matalon, R.2    Jam, M.3    Erb, M.4
  • 309
    • 0018827719 scopus 로고
    • Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities
    • Guggenheim MA, McCabe Erb, Roig M., et al: Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol 1980; 7: 441-449.
    • (1980) Ann Neurol , vol.7 , pp. 441-449
    • MA, G.1    Erb, M.2    Roig, M.3
  • 310
    • 0022622372 scopus 로고
    • Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal insufficiency associated with Xp21 interstitial deletion
    • Bartley JA, Patil S., Davenport S., et al: Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal insufficiency associated with Xp21 interstitial deletion. J Pediatr 1986; 108: 189-192.
    • (1986) J Pediatr , vol.108 , pp. 189-192
    • JA, B.1    Patil, S.2    Davenport, S.3
  • 311
    • 0021260347 scopus 로고
    • Malonyl coenzyme A decarboxylase deficiency
    • Brown GK, Scholem RD, Bankier A., Danks DM: Malonyl coenzyme A decarboxylase deficiency. J Inherited Metab Dis 1984; 7: 21-26.
    • (1984) J Inherited Metab Dis , vol.7 , pp. 21-26
    • GK, B.1    RD, S.2    Bankier, A.3    DM, D.4


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