메뉴 건너뛰기




Volumn 22, Issue 4, 1999, Pages 428-441

Defects in activation and transport of fatty acids

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CARRIER PROTEIN; LONG CHAIN FATTY ACID;

EID: 0032969196     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005552106301     Document Type: Conference Paper
Times cited : (50)

References (69)
  • 1
    • 0003601533 scopus 로고    scopus 로고
    • Carnitine palmitoyl transferase I deficiency (CPT I), three affected siblings in one family
    • Al Aqeel A, Rashed M (1998) Carnitine palmitoyl transferase I deficiency (CPT I), three affected siblings in one family (Abstract). J Inher Metab Dis 21 (supplement 2): 61.
    • (1998) J Inher Metab Dis , vol.21 , Issue.2 SUPPL. , pp. 61
    • Al Aqeel, A.1    Rashed, M.2
  • 2
    • 0028003777 scopus 로고
    • Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency
    • Bergman AJ, Donckerwolcke RA, Duran M, et al (1994) Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res 36: 582-588.
    • (1994) Pediatr Res , vol.36 , pp. 582-588
    • Bergman, A.J.1    Donckerwolcke, R.A.2    Duran, M.3
  • 4
    • 0029865178 scopus 로고    scopus 로고
    • Molecular analysis of carnitine palmitoyl-transferase II deficiency with hepatocardiomuscular expression
    • Bonnefont JP, Taroni F, Cavadini P, et al (1996) Molecular analysis of carnitine palmitoyl-transferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 58: 971-978.
    • (1996) Am J Hum Genet , vol.58 , pp. 971-978
    • Bonnefont, J.P.1    Taroni, F.2    Cavadini, P.3
  • 5
    • 0019499706 scopus 로고
    • Fasting hypoglycermia resulting from hepatic carnitine palmitoyltransferase deficiency
    • Bougneres PF, Saudubray JM, Marsac C, et al (1981) Fasting hypoglycermia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 98: 742-746.
    • (1981) J Pediatr , vol.98 , pp. 742-746
    • Bougneres, P.F.1    Saudubray, J.M.2    Marsac, C.3
  • 6
    • 0028904122 scopus 로고
    • Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene
    • Britton CH, Schultz RA, Zhang B, et al (1995) Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. Proc Natl Acad Sci USA 92: 1984-1988.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 1984-1988
    • Britton, C.H.1    Schultz, R.A.2    Zhang, B.3
  • 7
    • 0031568912 scopus 로고    scopus 로고
    • Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPTIA and CPT1B)
    • Britton CH, Mackey DW, Esser V, et al (1997) Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPTIA and CPT1B). Genomics 40:209-211.
    • (1997) Genomics , vol.40 , pp. 209-211
    • Britton, C.H.1    Mackey, D.W.2    Esser, V.3
  • 8
    • 0028931461 scopus 로고
    • Rapid diagnosis of long-chain and medium chain fatty acid oxidation disorders using lymphocytes
    • Brivet M, Slama A, Saudubray JM, et al (1995) Rapid diagnosis of long-chain and medium chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32: 154-159.
    • (1995) Ann Clin Biochem , vol.32 , pp. 154-159
    • Brivet, M.1    Slama, A.2    Saudubray, J.M.3
  • 9
    • 0029985828 scopus 로고    scopus 로고
    • Retrospective diagnosis of carnitine acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
    • Brivet M, Slama A, Millington D, et al (1996) Retrospective diagnosis of carnitine acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inher Metab Dis 19: 181-184.
    • (1996) J Inher Metab Dis , vol.19 , pp. 181-184
    • Brivet, M.1    Slama, A.2    Millington, D.3
  • 10
    • 0030688009 scopus 로고    scopus 로고
    • Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death
    • Chalmers RA, Stanley CA, English N, et al (1997) Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 131: 220-225.
    • (1997) J Pediatr , vol.131 , pp. 220-225
    • Chalmers, R.A.1    Stanley, C.A.2    English, N.3
  • 11
    • 0019202482 scopus 로고
    • Systemic carnitine deficiency - A treatable inherited lipid-storage disease presenting as Reye's syndrome
    • Chapoy PR, Angelini C, Brown WJ et al (1980) Systemic carnitine deficiency - a treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 303: 1389-1394.
    • (1980) N Engl J Med , vol.303 , pp. 1389-1394
    • Chapoy, P.R.1    Angelini, C.2    Brown, W.J.3
  • 12
    • 0029956829 scopus 로고    scopus 로고
    • First prenatal diagnosis of the carnitine transporter defect
    • Christodoulou J, Teo SH, Hammond J, et al (1996) First prenatal diagnosis of the carnitine transporter defect. Am J Med Genet 66: 21-24.
    • (1996) Am J Med Genet , vol.66 , pp. 21-24
    • Christodoulou, J.1    Teo, S.H.2    Hammond, J.3
  • 13
    • 0033040747 scopus 로고    scopus 로고
    • Identification of the molecular defect in a severe case of carnitine acylcarnitine carrier deficiency
    • Costa C, Costa JM Nuoffer JM, et al (1999) Identification of the molecular defect in a severe case of carnitine acylcarnitine carrier deficiency. J Inher Metab Dis 22: 267-270.
    • (1999) J Inher Metab Dis , vol.22 , pp. 267-270
    • Costa, C.1    Costa, J.M.2    Nuoffer, J.M.3
  • 14
    • 0023720123 scopus 로고
    • Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities
    • Demaugre F, Bonnefont JP, Mitchell G, et al (1988) Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res 24: 308-311.
    • (1988) Pediatr Res , vol.24 , pp. 308-311
    • Demaugre, F.1    Bonnefont, J.P.2    Mitchell, G.3
  • 15
    • 0025906746 scopus 로고
    • Infantile form of carnitine palmitoyl transferase II deficiency with hepatomuscular symptoms and sudden death : Physiopathological approach to carnitine palmitoyltransferase II deficiencies
    • Demaugre F, Bonnefont JP, Colonna M, et al (1991) Infantile form of carnitine palmitoyl transferase II deficiency with hepatomuscular symptoms and sudden death : physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87: 859-864.
    • (1991) J Clin Invest , vol.87 , pp. 859-864
    • Demaugre, F.1    Bonnefont, J.P.2    Colonna, M.3
  • 16
    • 0015800677 scopus 로고
    • Muscle carnitine palmitoyl transferase deficiency and myoglobinuria
    • DiMauro S, Melis-Dimauro PM (1973) Muscle carnitine palmitoyl transferase deficiency and myoglobinuria. Science 182: 929-931.
    • (1973) Science , vol.182 , pp. 929-931
    • DiMauro, S.1    Melis-Dimauro, P.M.2
  • 17
    • 0028156786 scopus 로고
    • Profound carnitine palmitoyl transferase II deficiency
    • Elpeleg ON, Gutman A (1994) Profound carnitine palmitoyl transferase II deficiency (Letter) J Pediatr 124: 160.
    • (1994) J Pediatr , vol.124 , pp. 160
    • Elpeleg, O.N.1    Gutman, A.2
  • 18
    • 0023718446 scopus 로고
    • Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts
    • Eriksson BO, Linstedt S, Nordin I (1988) Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts. Eur J Pediatr 147: 662-663.
    • (1988) Eur J Pediatr , vol.147 , pp. 662-663
    • Eriksson, B.O.1    Linstedt, S.2    Nordin, I.3
  • 19
    • 0027418315 scopus 로고
    • Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase I
    • Esser V, Britton CH, Weiss BC, et al (1993) Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase I. J Biol Chem 268: 5817-5822.
    • (1993) J Biol Chem , vol.268 , pp. 5817-5822
    • Esser, V.1    Britton, C.H.2    Weiss, B.C.3
  • 20
    • 0026008564 scopus 로고
    • cDNA cloning, sequence analysis and chromosomal localization of the gene for human carnitine palmitoyltransferase
    • Finocchiaro G, Taroni F, Rocchi M, et al (1991) cDNA cloning, sequence analysis and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 88: 661-665.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 661-665
    • Finocchiaro, G.1    Taroni, F.2    Rocchi, M.3
  • 21
    • 0032565650 scopus 로고    scopus 로고
    • Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency
    • Fontaine M, Briand G, Largillière C, et al (1998) Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. Clin Chim Acta 273: 161-170.
    • (1998) Clin Chim Acta , vol.273 , pp. 161-170
    • Fontaine, M.1    Briand, G.2    Largillière, C.3
  • 22
    • 0028007110 scopus 로고
    • Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32
    • Gellera C, Verderio E, Floridia G, et al (1994) Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32. Genomics 24: 195-197.
    • (1994) Genomics , vol.24 , pp. 195-197
    • Gellera, C.1    Verderio, E.2    Floridia, G.3
  • 23
    • 0028325389 scopus 로고
    • Primary defect of juvenile visceral steatosis (JVS) mouse with systemic carnitine deficiency is probably in renal carnitine transport system
    • Horiuchi M, Kobayashi K, Yamaguchi S, et al (1994) Primary defect of juvenile visceral steatosis (JVS) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. Biochim Biophys Acta 1226: 25-30.
    • (1994) Biochim Biophys Acta , vol.1226 , pp. 25-30
    • Horiuchi, M.1    Kobayashi, K.2    Yamaguchi, S.3
  • 24
    • 0026410146 scopus 로고
    • Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II
    • Hug G, Bove KE, Soukup S (1991) Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325: 1862-1864.
    • (1991) N Engl J Med , vol.325 , pp. 1862-1864
    • Hug, G.1    Bove, K.E.2    Soukup, S.3
  • 25
    • 17344366560 scopus 로고    scopus 로고
    • Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
    • Huizing M, Iacobazzi V, Ijlst L, et al (1997) Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 61: 1239-1245.
    • (1997) Am J Hum Genet , vol.61 , pp. 1239-1245
    • Huizing, M.1    Iacobazzi, V.2    Ijlst, L.3
  • 26
    • 7344249597 scopus 로고    scopus 로고
    • Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient
    • Huizing M, Wendel U, Ruitenbeek W, et al (1998) Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. J Inher Metab Dis 21: 262-267.
    • (1998) J Inher Metab Dis , vol.21 , pp. 262-267
    • Huizing, M.1    Wendel, U.2    Ruitenbeek, W.3
  • 27
    • 0032145885 scopus 로고    scopus 로고
    • Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
    • Ijlst L, Mandel H, Oostheim W, et al (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. J Clin Invest 102: 1-5.
    • (1998) J Clin Invest , vol.102 , pp. 1-5
    • Ijlst, L.1    Mandel, H.2    Oostheim, W.3
  • 28
    • 0031044917 scopus 로고    scopus 로고
    • The mitochondrial carnitine carrier protein cDNA cloning, primary structure and comparison with other mitochondrial transport proteins
    • Indiveri C, Iacobazzi V, Giangregorio N, et al (1997) The mitochondrial carnitine carrier protein cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. Biochem J 321: 713-719.
    • (1997) Biochem J , vol.321 , pp. 713-719
    • Indiveri, C.1    Iacobazzi, V.2    Giangregorio, N.3
  • 29
    • 0032544981 scopus 로고    scopus 로고
    • Carnitine uptake defect: Frameshift mutations in the human plasmalemmal carnitine transporter gene
    • Lamhonwah AH, Tein I (1998) Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Biochem Biophys Res Commun 252: 396-401.
    • (1998) Biochem Biophys Res Commun , vol.252 , pp. 396-401
    • Lamhonwah, A.H.1    Tein, I.2
  • 30
    • 0031043030 scopus 로고    scopus 로고
    • The mitochondrial carnitine palmitoyltransferase system: From concept to molecular analysis
    • McGarry JD, Brown NF (1997) The mitochondrial carnitine palmitoyltransferase system: from concept to molecular analysis. Eur J Biochem 244: 1-14.
    • (1997) Eur J Biochem , vol.244 , pp. 1-14
    • McGarry, J.D.1    Brown, N.F.2
  • 31
    • 0017875758 scopus 로고
    • Carnitine palmitoyltransferase I. the site of inhibition of hepatic fatty acid oxidation by malonylCoA
    • McGarry JD, Leatherman GF, Foster DW (1978) Carnitine palmitoyltransferase I. The site of inhibition of hepatic fatty acid oxidation by malonylCoA. J Biol them 253: 4128-4136.
    • (1978) J Biol Them , vol.253 , pp. 4128-4136
    • McGarry, J.D.1    Leatherman, G.F.2    Foster, D.W.3
  • 32
    • 0020624753 scopus 로고
    • Observations on the affinity for carnitine and malonylCoA sensitivity of carnitine palmitoyl transferase I in animals and human tissues
    • McGarry JD, Mills SE, Long CS et al (1983) Observations on the affinity for carnitine and malonylCoA sensitivity of carnitine palmitoyl transferase I in animals and human tissues. Biochem J 214: 21-28.
    • (1983) Biochem J , vol.214 , pp. 21-28
    • McGarry, J.D.1    Mills, S.E.2    Long, C.S.3
  • 33
    • 0026621735 scopus 로고
    • The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
    • Millington DS, Terada N, Chace DH et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res 375: 339-354.
    • (1992) Prog Clin Biol Res , vol.375 , pp. 339-354
    • Millington, D.S.1    Terada, N.2    Chace, D.H.3
  • 34
    • 0031940967 scopus 로고    scopus 로고
    • A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
    • Morris AAM, Olpin SE, Brivet M, et al (1998) A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. J Pediatr 132: 514-516.
    • (1998) J Pediatr , vol.132 , pp. 514-516
    • Morris, A.A.M.1    Olpin, S.E.2    Brivet, M.3
  • 35
    • 0023657289 scopus 로고
    • Some differencies in the properties of carnitine palmitoyl transferases activities of the outer and inner mitochondrial membranes
    • Murthy MSR, Pande SV (1987) Some differencies in the properties of carnitine palmitoyl transferases activities of the outer and inner mitochondrial membranes. Biochem J 248: 727-733.
    • (1987) Biochem J , vol.248 , pp. 727-733
    • Murthy, M.S.R.1    Pande, S.V.2
  • 36
    • 0028950214 scopus 로고
    • Evidence for intermediate channeling in mitochondrial β-oxidation
    • Nada M, Rhead W, Sprecher H, et al (1995) Evidence for intermediate channeling in mitochondrial β-oxidation. J Biol Chem 270: 530-535.
    • (1995) J Biol Chem , vol.270 , pp. 530-535
    • Nada, M.1    Rhead, W.2    Sprecher, H.3
  • 37
    • 0029020109 scopus 로고
    • A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency
    • Niezen-Koning KE, van Sproonsen FJ, Ijlst L, et al (1995) A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. J Inher Metab Dis 18: 230-232.
    • (1995) J Inher Metab Dis , vol.18 , pp. 230-232
    • Niezen-Koning, K.E.1    Van Sproonsen, F.J.2    Ijlst, L.3
  • 38
    • 0029080735 scopus 로고
    • Lethal neonatal deficiency of carnitine palmitoyl transferase II associated with dysgenesis of the brain and kidneys
    • North K, Hoppel CL, De Girolami U, et al (1995) Lethal neonatal deficiency of carnitine palmitoyl transferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127: 414-420.
    • (1995) J Pediatr , vol.127 , pp. 414-420
    • North, K.1    Hoppel, C.L.2    De Girolami, U.3
  • 39
    • 0028882774 scopus 로고
    • Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase
    • Ogier de Baulny H, Slama A, Touati G, et al (1995) Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr 127: 723-728.
    • (1995) J Pediatr , vol.127 , pp. 723-728
    • Ogier De Baulny, H.1    Slama, A.2    Touati, G.3
  • 40
    • 0030776297 scopus 로고    scopus 로고
    • Carnitine-acylcarnitine translocase deficiency: A mild phenotype
    • Olpin SE, Bonham JR, Downing M, et al (1997) Carnitine-acylcarnitine translocase deficiency: a mild phenotype. J Inher Metab Dis 20: 714-715.
    • (1997) J Inher Metab Dis , vol.20 , pp. 714-715
    • Olpin, S.E.1    Bonham, J.R.2    Downing, M.3
  • 41
    • 0027513206 scopus 로고
    • Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block
    • Pande SV, Brivet M, Slama A, et al (1993) Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. J Clin Invest 91: 1247-1252.
    • (1993) J Clin Invest , vol.91 , pp. 1247-1252
    • Pande, S.V.1    Brivet, M.2    Slama, A.3
  • 42
    • 0030772205 scopus 로고    scopus 로고
    • Deficient muscle carnitine transport in primary carnitine deficiency
    • Pons R, Carrozzo R, Tein I, et al (1997) Deficient muscle carnitine transport in primary carnitine deficiency. Pediatr Res 42: 583-587.
    • (1997) Pediatr Res , vol.42 , pp. 583-587
    • Pons, R.1    Carrozzo, R.2    Tein, I.3
  • 43
    • 0030712175 scopus 로고    scopus 로고
    • Sudden neonatal death in carnitine transporter deficiency
    • Rinaldo P, Stanley CA, Hsu Byl, et al (1997) Sudden neonatal death in carnitine transporter deficiency. J Pediatr 131: 304-305.
    • (1997) J Pediatr , vol.131 , pp. 304-305
    • Rinaldo, P.1    Stanley, C.A.2    Byl, H.3
  • 44
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Roe CR, Coates PM (1995) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1501-1535.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Edn. , pp. 1501-1535
    • Roe, C.R.1    Coates, P.M.2
  • 45
    • 0019992258 scopus 로고
    • Oxidation of fatty acids in cultured fibroblasts : A model system for the detection of and study of defects in oxidation
    • Saudubray JM, Coude FX, Demaugre F, et al (1982) Oxidation of fatty acids in cultured fibroblasts : a model system for the detection of and study of defects in oxidation. Pediatr Res 16: 877-881.
    • (1982) Pediatr Res , vol.16 , pp. 877-881
    • Saudubray, J.M.1    Coude, F.X.2    Demaugre, F.3
  • 46
    • 0033004986 scopus 로고    scopus 로고
    • Recognition and management of fatty acid oxidation defects: A series of 107 patients
    • Saudubray JM, Martin D, De Lonlay et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients J Inher Metab Dis 22: 488-502.
    • (1999) J Inher Metab Dis , vol.22 , pp. 488-502
    • Saudubray, J.M.1    Martin, D.2    De Lonlay3
  • 47
    • 0031040157 scopus 로고    scopus 로고
    • Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy
    • Schaefer J, Jackson S, Taroni F, et al (1997) Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. J Neurol Neurosurg Psychiatry 62: 169-176.
    • (1997) J Neurol Neurosurg Psychiatry , vol.62 , pp. 169-176
    • Schaefer, J.1    Jackson, S.2    Taroni, F.3
  • 48
    • 0032231462 scopus 로고    scopus 로고
    • Evidence for linkage of human primary systemic carnitine deficiency with D5S436: A novel gene locus on chromosome 63
    • Shoji Y, Koizumi A, Kayo T, et al (1998) Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 63. Am J Hum Genet 63: 101-108.
    • (1998) Am J Hum Genet , vol.63 , pp. 101-108
    • Shoji, Y.1    Koizumi, A.2    Kayo, T.3
  • 49
    • 0029785819 scopus 로고    scopus 로고
    • Complementation analysis of carnitine palmitoyl transferase I and II defects
    • Slama A, Brivet M, Boutron A, et al (1996) Complementation analysis of carnitine palmitoyl transferase I and II defects. Pediatr Res 40: 542-546.
    • (1996) Pediatr Res , vol.40 , pp. 542-546
    • Slama, A.1    Brivet, M.2    Boutron, A.3
  • 50
    • 0025995690 scopus 로고
    • Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
    • Stanley CA, DeLeeuw S, Coates PM, et al (1991) Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 30: 709-716.
    • (1991) Ann Neurol , vol.30 , pp. 709-716
    • Stanley, C.A.1    DeLeeuw, S.2    Coates, P.M.3
  • 51
    • 0026736847 scopus 로고
    • Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase I deficiency
    • Stanley CA, Sunyaro F, Hale DE, et al (1992a) Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase I deficiency. J Inher Metab Dis 15: 785-789.
    • (1992) J Inher Metab Dis , vol.15 , pp. 785-789
    • Stanley, C.A.1    Sunyaro, F.2    Hale, D.E.3
  • 52
    • 0026703357 scopus 로고
    • Brief report: A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
    • Stanley CA, Hale DE, Berry GT, et al (1992b) Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Eng J Med 327: 19-23.
    • (1992) N Eng J Med , vol.327 , pp. 19-23
    • Stanley, C.A.1    Hale, D.E.2    Berry, G.T.3
  • 53
    • 0026744712 scopus 로고
    • Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
    • Taroni F, Verderio E, Fiorucci S, et al (1992) Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89: 8429-8433.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8429-8433
    • Taroni, F.1    Verderio, E.2    Fiorucci, S.3
  • 54
    • 0027302901 scopus 로고
    • Identification of a common mutation in the carnitine palmitoyl transferase gene in familial recurrent myoglobinuria patients
    • Taroni F, Verderio E, Dworzak F, et al (1993) Identification of a common mutation in the carnitine palmitoyl transferase gene in familial recurrent myoglobinuria patients. Nature Genetics 4: 314-320.
    • (1993) Nature Genetics , vol.4 , pp. 314-320
    • Taroni, F.1    Verderio, E.2    Dworzak, F.3
  • 55
    • 0030606688 scopus 로고    scopus 로고
    • The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: A new non-invasive method for diagnosis
    • Tein I, Xie ZW (1996) The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis. Clin Chim Acta 252: 201-204.
    • (1996) Clin Chim Acta , vol.252 , pp. 201-204
    • Tein, I.1    Xie, Z.W.2
  • 56
    • 0024473260 scopus 로고
    • Normal muscle CPT I and CPT II activities in hepatic presentation patients with CPT I deficiency in fibroblasts
    • Tein I Demaugre F, Bonnefont JP, et al (1989) Normal muscle CPT I and CPT II activities in hepatic presentation patients with CPT I deficiency in fibroblasts. J Neurol Sci 92: 229-245.
    • (1989) J Neurol Sci , vol.92 , pp. 229-245
    • Tein, I.1    Demaugre, F.2    Bonnefont, J.P.3
  • 57
    • 0025026022 scopus 로고
    • Impaired skin fibroblasts carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
    • Tein I, De Vivo DC, Bierman F, et al (1990) Impaired skin fibroblasts carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 28: 247-255.
    • (1990) Pediatr Res , vol.28 , pp. 247-255
    • Tein, I.1    De Vivo, D.C.2    Bierman, F.3
  • 58
    • 25744474171 scopus 로고    scopus 로고
    • The muscular form of carnitine palmitoyltransferase II (CPT II) exposes to severe cardiac dysfunction depending on the type of CPT II mutations
    • Thuillier L, Sevin C, Demaugre F, et al (1997) The muscular form of carnitine palmitoyltransferase II (CPT II) exposes to severe cardiac dysfunction depending on the type of CPT II mutations. (Abstract). Am J Hum Genet 61(supplement): A 263.
    • (1997) Am J Hum Genet , vol.61 , Issue.SUPPL.
    • Thuillier, L.1    Sevin, C.2    Demaugre, F.3
  • 59
    • 0024246260 scopus 로고
    • Primary carnitine deficiency due to a failure of carnitine transport in muscle and fibroblasts
    • Treem WR, Stanley CA, Finegold DN, et al (1988) Primary carnitine deficiency due to a failure of carnitine transport in muscle and fibroblasts. N Eng J Med 319: 1331-1336.
    • (1988) N Eng J Med , vol.319 , pp. 1331-1336
    • Treem, W.R.1    Stanley, C.A.2    Finegold, D.N.3
  • 60
    • 0028859651 scopus 로고
    • Carnitine palmitoyl transferase type II deficiency : Structure of the gene and characterization of two novel disease-causing mutations
    • Verderio E, Cavadini P, Montermini L, et al (1995) Carnitine palmitoyl transferase type II deficiency : structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4: 19-29.
    • (1995) Hum Mol Genet , vol.4 , pp. 19-29
    • Verderio, E.1    Cavadini, P.2    Montermini, L.3
  • 61
    • 0029080579 scopus 로고
    • Infantile form of carnitine palmitoyltransferase type II deficiency in a girl with rapid fatal onset
    • Vianney-Saban C, Stremler N, Paul O, et al (1995) Infantile form of carnitine palmitoyltransferase type II deficiency in a girl with rapid fatal onset. J Inher Metab Dis 18: 362-363.
    • (1995) J Inher Metab Dis , vol.18 , pp. 362-363
    • Vianney-Saban, C.1    Stremler, N.2    Paul, O.3
  • 62
    • 0031424187 scopus 로고    scopus 로고
    • Assignment of the carnitine-acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization
    • Viggiano L, Iacobazzi V, Marzella R, et al (1997) Assignment of the carnitine-acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Cytogenet Cell Genet 79: 62-63.
    • (1997) Cytogenet Cell Genet , vol.79 , pp. 62-63
    • Viggiano, L.1    Iacobazzi, V.2    Marzella, R.3
  • 63
    • 7144227283 scopus 로고    scopus 로고
    • Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency functional analysis and association with polymorphic haplotypes and two clinical phenotypes
    • Wataya K, Akanuma J, Cavadini P, et al (1998) Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 11: 377-386.
    • (1998) Hum Mutat , vol.11 , pp. 377-386
    • Wataya, K.1    Akanuma, J.2    Cavadini, P.3
  • 64
    • 0028238880 scopus 로고
    • Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I
    • Weis BC, Esser V, Foster DW, et al (1994) Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. J Biol Chem 269: 18712-18715.
    • (1994) J Biol Chem , vol.269 , pp. 18712-18715
    • Weis, B.C.1    Esser, V.2    Foster, D.W.3
  • 65
    • 0001123688 scopus 로고
    • Carnitine palmitoyl transferase type II deficiency: Two new cases and successful prenatal diagnosis
    • Witt DR, Theobald M, Santa-Maria M, et al (1991) Carnitine palmitoyl transferase type II deficiency: two new cases and successful prenatal diagnosis (Abstract). Am J Hum Genet 49(supplement4): 109.
    • (1991) Am J Hum Genet , vol.49 , Issue.4 SUPPL. , pp. 109
    • Witt, D.R.1    Theobald, M.2    Santa-Maria, M.3
  • 66
    • 0025376052 scopus 로고
    • Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II
    • Woeltje KF, Esser V, Weis BC, et al (1990) Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II. J Biol Chem 265: 10720-10725.
    • (1990) J Biol Chem , vol.265 , pp. 10720-10725
    • Woeltje, K.F.1    Esser, V.2    Weis, B.C.3
  • 67
    • 0029954698 scopus 로고    scopus 로고
    • Two novel gene mutations (G174→Lys, Phe383 → Tyr) causing the hepatic form of carnitine palmitoyl transferase II deficiency
    • Yamamoto S, Abe H, Kohgo T, et al (1996) Two novel gene mutations (G174→Lys, Phe383 → Tyr) causing the hepatic form of carnitine palmitoyl transferase II deficiency. Hum Genet 98: 116-118.
    • (1996) Hum Genet , vol.98 , pp. 116-118
    • Yamamoto, S.1    Abe, H.2    Kohgo, T.3
  • 68
    • 0030798104 scopus 로고    scopus 로고
    • Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I
    • Yamazaki N, Yamanaka Y, Hashimoto Y, et al (1997) Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. FEBS Lett 409: 401-406.
    • (1997) FEBS Lett , vol.409 , pp. 401-406
    • Yamazaki, N.1    Yamanaka, Y.2    Hashimoto, Y.3
  • 69
    • 0002662164 scopus 로고
    • Carnitine palmitoyl transferase deficiency
    • Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
    • Ziers S (1994) Carnitine palmitoyl transferase deficiency. In: Engel AG, Franzini-Armstrong C, eds. Myology 2nd edn, vol. 2. New York: McGraw-Hill, 1577-1586.
    • (1994) Myology 2nd Edn , vol.2 , pp. 1577-1586
    • Ziers, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.