메뉴 건너뛰기




Volumn 35, Issue SUPPL. 1, 2002, Pages

Congenital errors of metabolism with epileptic seizures during the first years of life;Errores congénitos del metabolismo con crisis epilépticas en los primeros años de vida

Author keywords

Children; Congenital errors of metabolism; Diagnostic protocol; Epilepsy

Indexed keywords

4 AMINOBUTYRIC ACID; BIOTINIDASE; CARBOHYDRATE; CARBOXYLIC ACID; GLUCOSE; GLYCOPROTEIN; LYSOZYME; MITOCHONDRIAL DNA; NEUROTRANSMITTER; PURINE; PYRIMIDINE; SULFITE OXIDASE;

EID: 0036764006     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (5)

References (90)
  • 2
    • 2642600481 scopus 로고
    • Degenerative disorders of the central nervous system
    • Sant Louis: Mosby CV Eds.
    • Allen RJ. Degenerative disorders of the central nervous system. The Practice of Pediatric Neurology. Sant Louis: Mosby CV Eds.; 1989.
    • (1989) The Practice of Pediatric Neurology
    • Allen, R.J.1
  • 4
    • 0033556566 scopus 로고    scopus 로고
    • Aproximación al diagnóstico de la enfermedades neurometabólicas pot la neuroimagen
    • Campistol J. Aproximación al diagnóstico de la enfermedades neurometabólicas pot la neuroimagen. Rev Neurol 1999; 28: 16-23.
    • (1999) Rev Neurol , vol.28 , pp. 16-23
    • Campistol, J.1
  • 7
    • 0033929961 scopus 로고    scopus 로고
    • Síndromes epilépticos del período neonatal y errores congénitos del metabolismo
    • Campistol J. Síndromes epilépticos del período neonatal y errores congénitos del metabolismo. Rev Neurol 2000; 30 (Supl 1): S60-74.
    • (2000) Rev Neurol , vol.30 , Issue.SUPPL. 1
    • Campistol, J.1
  • 9
    • 0027241390 scopus 로고
    • Metabolic and degenerative diseases associated with epilepsy
    • Cohen BH. Metabolic and degenerative diseases associated with epilepsy. Epilepsia 1993; 34 (Suppl 3): S62-70.
    • (1993) Epilepsia , vol.34 , Issue.SUPPL. 3
    • Cohen, B.H.1
  • 10
    • 0033366943 scopus 로고    scopus 로고
    • Manifestaciones epilépticas de causa metabólica
    • Herranz JL, de las Cuevas I. Manifestaciones epilépticas de causa metabólica. Rev Neurol 1999; 28 (Supl 1): S23-8.
    • (1999) Rev Neurol , vol.28 , Issue.SUPPL. 1
    • Herranz, J.L.1    De las Cuevas, I.2
  • 11
    • 0033754154 scopus 로고    scopus 로고
    • Mutations of the SCO 1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy
    • Valnot I, Ormond S, Gigarel N. Mutations of the SCO 1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000; 67: 1104-9.
    • (2000) Am J Hum Genet , vol.67 , pp. 1104-1109
    • Valnot, I.1    Ormond, S.2    Gigarel, N.3
  • 12
    • 0035964220 scopus 로고    scopus 로고
    • Pheno/genotypic correlations of neuronal ceroid lipofuscinosis
    • Wisniewski KE, Zhong N, Philippart M. Pheno/genotypic correlations of neuronal ceroid lipofuscinosis. Neurology 2001; 57: 576-81.
    • (2001) Neurology , vol.57 , pp. 576-581
    • Wisniewski, K.E.1    Zhong, N.2    Philippart, M.3
  • 13
    • 0030928379 scopus 로고    scopus 로고
    • Menkes disease: Recent advances and new aspects
    • Tümer Z, Horn N. Menkes disease: Recent advances and new aspects. J Med Genet 1997; 34: 265-74.
    • (1997) J Med Genet , vol.34 , pp. 265-274
    • Tümer, Z.1    Horn, N.2
  • 14
    • 0033620935 scopus 로고    scopus 로고
    • Enfermedad de Menkes: Experiencia en el tratamiento con sales de cobre
    • Guitet M, Campistol J, Medina M. Enfermedad de Menkes: Experiencia en el tratamiento con sales de cobre. Rev Neurol 1999; 29: 127-30.
    • (1999) Rev Neurol , vol.29 , pp. 127-130
    • Guitet, M.1    Campistol, J.2    Medina, M.3
  • 16
    • 0034951327 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • DiMauro S, Schon EA. Mitochondrial DNA mutations in human disease. Am J Med Genet 2001; 10: 18-26.
    • (2001) Am J Med Genet , vol.10 , pp. 18-26
    • DiMauro, S.1    Schon, E.A.2
  • 18
    • 0034255870 scopus 로고    scopus 로고
    • 74th ENMC International workshop: Mitochondrial diseases
    • Poulton J, Turnbull DM. 74th ENMC International workshop: Mitochondrial diseases. Neuromusc Disord 2000; 10: 460-2.
    • (2000) Neuromusc Disord , vol.10 , pp. 460-462
    • Poulton, J.1    Turnbull, D.M.2
  • 20
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • Thorburn DR, Dahl HHM. Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 2001; 106: 102-14.
    • (2001) Am J Med Genet , vol.106 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.M.2
  • 22
    • 0025184824 scopus 로고
    • Displacement bone marrow transplantation for some inborn errors
    • Hobbs JR. Displacement bone marrow transplantation for some inborn errors. J Inher Metab Dis 1990; 13: 572-96.
    • (1990) J Inher Metab Dis , vol.13 , pp. 572-596
    • Hobbs, J.R.1
  • 24
    • 0035283136 scopus 로고    scopus 로고
    • Nonablative neonatal marrow transplantation attenuates functional and physiological defects of beta-glucuronidase deficiency
    • Soper BN, Lessard MD, Vogler CA, Levy B, Beamer WG, Sly WS. Nonablative neonatal marrow transplantation attenuates functional and physiological defects of beta-glucuronidase deficiency. Blod 2001; 197: 1498-504.
    • (2001) Blod , vol.197 , pp. 1498-1504
    • Soper, B.N.1    Lessard, M.D.2    Vogler, C.A.3    Levy, B.4    Beamer, W.G.5    Sly, W.S.6
  • 25
    • 0014520157 scopus 로고
    • Infantile globoid cell leukodystrophy (Krabbe's disease): A clinical and genetic study of 32 Swedish cases 1953-1967
    • Hagberg B, Kollberg H, Sourander P, Akesson HO Infantile globoid cell leukodystrophy (Krabbe's disease): A clinical and genetic study of 32 Swedish cases 1953-1967. Neuropaediatrie 1970; 1: 74-88.
    • (1970) Neuropaediatrie , vol.1 , pp. 74-88
    • Hagberg, B.1    Kollberg, H.2    Sourander, P.3    Akesson, H.O.4
  • 27
    • 0021846346 scopus 로고
    • Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form
    • Loonen MC, van Diggelen OP, Janse HC, Kleijer WJ, Arts WF. Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form. Neuropediatrics 1985; 16: 137-42.
    • (1985) Neuropediatrics , vol.16 , pp. 137-142
    • Loonen, M.C.1    Van Diggelen, O.P.2    Janse, H.C.3    Kleijer, W.J.4    Arts, W.F.5
  • 28
    • 0026409894 scopus 로고
    • Symptomatology of late onset Krabbe's leukodystrophy: The European experience
    • Lyon G, Hagberg B, Evrard P, Allaire C, Pavone L, Vanier M. Symptomatology of late onset Krabbe's leukodystrophy: The European experience. Dev Neurosci 1991; 13: 240-4.
    • (1991) Dev Neurosci , vol.13 , pp. 240-244
    • Lyon, G.1    Hagberg, B.2    Evrard, P.3    Allaire, C.4    Pavone, L.5    Vanier, M.6
  • 29
    • 0025944348 scopus 로고
    • Globoid cell leukodystrophy: A family with both late-infantile and adult type
    • Verdru P, Lammens M, Dom R, van Elsen A, Carton H. Globoid cell leukodystrophy: A family with both late-infantile and adult type. Neurology 1991; 41: 1382-4.
    • (1991) Neurology , vol.41 , pp. 1382-1384
    • Verdru, P.1    Lammens, M.2    Dom, R.3    Van Elsen, A.4    Carton, H.5
  • 30
    • 0002043462 scopus 로고    scopus 로고
    • Krabbe disease (globoid cell leukodystrophy)
    • Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. Boston: Butterworth-Heinemann
    • Wenger DA. Krabbe disease (globoid cell leukodystrophy). In Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The Molecular and Genetic Basis of Neurological Disease. Boston: Butterworth-Heinemann; 1997. p. 421-31.
    • (1997) The Molecular and Genetic Basis of Neurological Disease , pp. 421-431
    • Wenger, D.A.1
  • 31
    • 0023273599 scopus 로고
    • Lysosomal alpha-N-acetylgalactosaminidase deficiency: A new inherited metabolic disease
    • Van Diggelen OP, Schindler D, Kleijer WS. Lysosomal alpha-N-acetylgalactosaminidase deficiency: A new inherited metabolic disease. Lancet 1987; 2: 804.
    • (1987) Lancet , vol.2 , pp. 804
    • Van Diggelen, O.P.1    Schindler, D.2    Kleijer, W.S.3
  • 32
    • 0025162651 scopus 로고
    • Schindler disease: An inherited neuroaxonal dystrophy due to alpha-N-acetylgalaetosaminidase acetylgalactosaminidase Deficiency
    • Desnick RJ, Wang AM. Schindler disease: An inherited neuroaxonal dystrophy due to alpha-N-acetylgalaetosaminidase acetylgalactosaminidase Deficiency. J Inher Metab Dis 1990; 13: 549-59.
    • (1990) J Inher Metab Dis , vol.13 , pp. 549-559
    • Desnick, R.J.1    Wang, A.M.2
  • 33
    • 0012189998 scopus 로고
    • Fabry disease and Schindler disease
    • Scriver CH, Beaudet A, Sly W, Valle D, eds. New York: McGraw Hill
    • Desnick R, Bishop D. Fabry disease and Schindler disease. In Scriver CH, Beaudet A, Sly W, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw Hill; 1995.
    • (1995) The Metabolic Basis of Inherited Disease
    • Desnick, R.1    Bishop, D.2
  • 34
    • 0030070908 scopus 로고    scopus 로고
    • Déficit de biotinidasa. Forma de presentación y respuesta al tratamiento
    • Campistol J, Vilaseca MA, Ribes A, Riudor E. Déficit de biotinidasa. Forma de presentación y respuesta al tratamiento. An Esp Ped 1996; 44: 389-92.
    • (1996) An Esp Ped , vol.44 , pp. 389-392
    • Campistol, J.1    Vilaseca, M.A.2    Ribes, A.3    Riudor, E.4
  • 35
    • 0027177418 scopus 로고
    • Characterization of seizures associated with biotinidase deficiency
    • Salbert BA, Pellock JM, Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology 1993; 43: 1351-5.
    • (1993) Neurology , vol.43 , pp. 1351-1355
    • Salbert, B.A.1    Pellock, J.M.2    Wolf, B.3
  • 37
    • 0021846155 scopus 로고
    • Long-term auditory and visual complications of biotinidase deficiency
    • Taitz LS, Leonard JV, Bartlett K. Long-term auditory and visual complications of biotinidase deficiency. Early Hum Dev 1985; 11: 325-31.
    • (1985) Early Hum Dev , vol.11 , pp. 325-331
    • Taitz, L.S.1    Leonard, J.V.2    Bartlett, K.3
  • 38
    • 0027934890 scopus 로고
    • Localization of serum biotinidase (BTD) to human chromosome 3 in band p25
    • Cole H, Weremowicz S, Morton CC, Wolf B. Localization of serum biotinidase (BTD) to human chromosome 3 in band p25. Genomics 1994; 22: 662-3.
    • (1994) Genomics , vol.22 , pp. 662-663
    • Cole, H.1    Weremowicz, S.2    Morton, C.C.3    Wolf, B.4
  • 39
    • 0003114965 scopus 로고
    • Disorders of biotin metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 7 Ed. New York: McGraw-Hill
    • Wolf B. Disorders of biotin metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 7 Ed. The Molecular and Metabolic Bases of Inherited Disease. New York: McGraw-Hill; 1995. p. 3151-77.
    • (1995) The Molecular and Metabolic Bases of Inherited Disease , pp. 3151-3177
    • Wolf, B.1
  • 40
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorachia, seizures and developmental delay
    • De Vivo, Tfifiletti RR, Jacobson RI. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorachia, seizures and developmental delay. N Engl J Med 1991; 325: 703-9.
    • (1991) N Engl J Med , vol.325 , pp. 703-709
    • De Vivo1    Tfifiletti, R.R.2    Jacobson, R.I.3
  • 42
    • 0000216888 scopus 로고    scopus 로고
    • Nuevas enfermedades neurometabólicas: Signos clinicos de sospecha
    • García Silva MT. Nuevas enfermedades neurometabólicas: Signos clinicos de sospecha. Rev Neurol 1999; 28: 161-8.
    • (1999) Rev Neurol , vol.28 , pp. 161-168
    • García Silva, M.T.1
  • 43
    • 0020841118 scopus 로고
    • Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency
    • Philippart M, Engel J Jr, Zimmerman EG. Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency. Ann Neurol 1993; 14: 492-3.
    • (1993) Ann Neurol , vol.14 , pp. 492-493
    • Philippart, M.1    Engel J., Jr.2    Zimmerman, E.G.3
  • 44
    • 0031813260 scopus 로고    scopus 로고
    • Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease
    • Tedeschi G, Bonavita S, Barton NW, Betolino A, Frank JA, Patronas NJ, et al. Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease. J Neurol Neurosurg Psychiatry 1998; 65: 72-9.
    • (1998) J Neurol Neurosurg Psychiatry , vol.65 , pp. 72-79
    • Tedeschi, G.1    Bonavita, S.2    Barton, N.W.3    Betolino, A.4    Frank, J.A.5    Patronas, N.J.6
  • 46
    • 0023879638 scopus 로고
    • Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients
    • Vanier MT, Wenger DA, Comly ME, Rousson R, Brady RO, Pentchev PG. Niemann-Pick disease group C: Clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients. Clin Genet 1988; 33: 331-48.
    • (1988) Clin Genet , vol.33 , pp. 331-348
    • Vanier, M.T.1    Wenger, D.A.2    Comly, M.E.3    Rousson, R.4    Brady, R.O.5    Pentchev, P.G.6
  • 50
    • 0021483386 scopus 로고
    • The biochemical basis of gangliosidoses
    • Sandhoff K, Conzelmann E. The biochemical basis of gangliosidoses. Neuropediatrics 1984; 15: 85-90.
    • (1984) Neuropediatrics , vol.15 , pp. 85-90
    • Sandhoff, K.1    Conzelmann, E.2
  • 51
    • 0020788725 scopus 로고
    • Leucodistrofia metacromática. Forma infantil tardía. Revisión de 6 observaciones
    • Campistol J, Colomer J, Póo P, Vernet A, Fernández-Álvarez E. Leucodistrofia metacromática. Forma infantil tardía. Revisión de 6 observaciones An Esp Ped 1983; 19: 41-8.
    • (1983) An Esp Ped , vol.19 , pp. 41-48
    • Campistol, J.1    Colomer, J.2    Póo, P.3    Vernet, A.4    Fernández-Álvarez, E.5
  • 53
    • 0012147266 scopus 로고
    • Metachromatic form of diffuse cerebral sclerosis. Low sulfatase activity in the urine of nine living patients with metachromatic leukodystrophy
    • Austin JH, McAffec D, Sheares L. Metachromatic form of diffuse cerebral sclerosis. Low sulfatase activity in the urine of nine living patients with metachromatic leukodystrophy. Arch Neurol 1965; 12: 447-50.
    • (1965) Arch Neurol , vol.12 , pp. 447-450
    • Austin, J.H.1    McAffec, D.2    Sheares, L.3
  • 54
    • 0021084827 scopus 로고
    • Developmental and degenerative patterns associated with cognitive, behavioral and motor difficulties in Sanfilippo syndrome. An epidemiology study
    • Nidiffer FD, Kelly TE. Developmental and degenerative patterns associated with cognitive, behavioral and motor difficulties in Sanfilippo syndrome. An epidemiology study. J Ment Defic Res 1983; 27: 185-94.
    • (1983) J Ment Defic Res , vol.27 , pp. 185-194
    • Nidiffer, F.D.1    Kelly, T.E.2
  • 55
    • 0023113324 scopus 로고
    • Sanfilippo syndrome type D
    • Kaplan P, Wolfe LS. Sanfilippo syndrome type D. J Pediatr 1987; 110: 268-71.
    • (1987) J Pediatr , vol.110 , pp. 268-271
    • Kaplan, P.1    Wolfe, L.S.2
  • 56
    • 0003351302 scopus 로고
    • Disorders of glycoprotein degradation
    • Scriver CH, Beaudet AL, Sly W, Valle D, eds. New York: McGraw Hill Inc.
    • Beaudet AL, Thomas GH. Disorders of glycoprotein degradation. In Scriver CH, Beaudet AL, Sly W, Valle D, eds. The Metabolic Basis of Inherited Disease. New York: McGraw Hill Inc.; 1995.
    • (1995) The Metabolic Basis of Inherited Disease
    • Beaudet, A.L.1    Thomas, G.H.2
  • 58
  • 63
    • 0025329012 scopus 로고
    • Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation
    • Aubourg P, Blanche S, Jambaque I, Rocchiccioli F, Kalifa G, Naud-Saudreau C, et al. Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med 1990; 322: 1860-6.
    • (1990) N Engl J Med , vol.322 , pp. 1860-1866
    • Aubourg, P.1    Blanche, S.2    Jambaque, I.3    Rocchiccioli, F.4    Kalifa, G.5    Naud-Saudreau, C.6
  • 64
    • 0035208916 scopus 로고    scopus 로고
    • ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
    • Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, et al. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations. Hum Mutat 2001; 18: 499-515.
    • (2001) Hum Mutat , vol.18 , pp. 499-515
    • Kemp, S.1    Pujol, A.2    Waterham, H.R.3    Van Geel, B.M.4    Boehm, C.D.5    Raymond, G.V.6
  • 67
    • 0033514946 scopus 로고    scopus 로고
    • Phenylketonuria: Old disease, new approach to treatment
    • Levy HL. Phenylketonuria: Old disease, new approach to treatment. Proc Natl Acad Sci U S A 1999; 96: 1811-3.
    • (1999) Proc Natl Acad Sci U S A , vol.96 , pp. 1811-1813
    • Levy, H.L.1
  • 68
    • 0000134296 scopus 로고    scopus 로고
    • The hyperphenylalaninemias
    • Scriver CR, Kaufman S, Eisensmith E, Woo SLC, Vogelstein B, Childs B, eds. New York: McGraw Hill
    • Scriver CR, Kaufman S. The hyperphenylalaninemias. In Scriver CR, Kaufman S, Eisensmith E, Woo SLC, Vogelstein B, Childs B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 Ed. New York: McGraw Hill; 2001.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8 Ed.
    • Scriver, C.R.1    Kaufman, S.2
  • 71
    • 0000138089 scopus 로고    scopus 로고
    • Disorders of tetrahydro-biopterin and related biogenic amines
    • Scriver CR, Kaufman S, Eisensmith E, Woo SLC, Vogelstein B, Childs B, eds. New York: McGraw Hill
    • Blau N, Thony B, Cotton RGH, Hyland K. Disorders of tetrahydro-biopterin and related biogenic amines. In Scriver CR, Kaufman S, Eisensmith E, Woo SLC, Vogelstein B, Childs B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 Ed. New York: McGraw Hill; 2001.
    • (2001) The Metabolic and Molecular Bases of Inherited Disease. 8 Ed.
    • Blau, N.1    Thony, B.2    Cotton, R.G.H.3    Hyland, K.4
  • 72
    • 0029786186 scopus 로고    scopus 로고
    • Untreated non-phenylketonuric-hyperphenylalaninaemia: Intellectual and neurological outcome
    • Weglage J, Ullrich K, Pietsch M, Funders B, Zass R, Koch HG. Untreated non-phenylketonuric-hyperphenylalaninaemia: Intellectual and neurological outcome. Eur J Pediatr 1996; 155 (Suppl 1): S26-8.
    • (1996) Eur J Pediatr , vol.155 , Issue.SUPPL. 1
    • Weglage, J.1    Ullrich, K.2    Pietsch, M.3    Funders, B.4    Zass, R.5    Koch, H.G.6
  • 73
    • 0032231461 scopus 로고    scopus 로고
    • A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype
    • Guldberg P, Rey F, Zschocke J, Romano V, Francois B, Michiels L, et al. A European multicenter study of phenylalanine hydroxylase deficiency: Classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 71-9.
    • (1998) Am J Hum Genet , vol.63 , pp. 71-79
    • Guldberg, P.1    Rey, F.2    Zschocke, J.3    Romano, V.4    Francois, B.5    Michiels, L.6
  • 74
    • 0021918515 scopus 로고
    • Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase
    • Kwok SC, Ledley FD, DiLella AG, Robson KJ, Woo SL. Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase. Biochemistry 1985; 24: 556-61.
    • (1985) Biochemistry , vol.24 , pp. 556-561
    • Kwok, S.C.1    Ledley, F.D.2    DiLella, A.G.3    Robson, K.J.4    Woo, S.L.5
  • 75
    • 0012109839 scopus 로고    scopus 로고
    • Errores congénitos del metabolismo intermediario en la infancia. Formas de presentación y orientación diagnóstica
    • Campistol J. Errores congénitos del metabolismo intermediario en la infancia. Formas de presentación y orientación diagnóstica. Canarias Pediátrica 1997; 7: 99-106.
    • (1997) Canarias Pediátrica , vol.7 , pp. 99-106
    • Campistol, J.1
  • 76
    • 0012146675 scopus 로고    scopus 로고
    • Aminoácidos y derivados
    • Fuentes Arderiu X, Castrineiros Lacambra M J, Queraltó Compañó JM, eds. Barcelona: Reverté SA
    • Vilaseca MA. Aminoácidos y derivados. In Fuentes Arderiu X, Castrineiros Lacambra M J, Queraltó Compañó JM, eds. Bioquímica Clínica y Patología Molecular. 2 Ed. Barcelona: Reverté SA; 1998. p. 703-19.
    • (1998) Bioquímica Clínica y Patología Molecular. 2 Ed. , pp. 703-719
    • Vilaseca, M.A.1
  • 78
    • 0012149197 scopus 로고    scopus 로고
    • Diagnóstico y tratamiento de las enfermedades del ciclo de la urea
    • Sanjurjo P, Baldellou A, eds. Madrid: Ergón
    • Sanjurjo P, Rubio V. Diagnóstico y tratamiento de las enfermedades del ciclo de la urea. In Sanjurjo P, Baldellou A, eds. Errores Congénitos del Metabolismo. Madrid: Ergón; 2001.
    • (2001) Errores Congénitos del Metabolismo
    • Sanjurjo, P.1    Rubio, V.2
  • 80
    • 0032429326 scopus 로고    scopus 로고
    • Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria
    • Gallagher PM, Naughten E, Hanson NQ, Schwichtenberg K, Bignell M, Juan M, et al. Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. Molec Genet Metab 1998; 65: 298-302.
    • (1998) Molec Genet Metab , vol.65 , pp. 298-302
    • Gallagher, P.M.1    Naughten, E.2    Hanson, N.Q.3    Schwichtenberg, K.4    Bignell, M.5    Juan, M.6
  • 81
    • 0034828509 scopus 로고    scopus 로고
    • The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency
    • Yap S, Rushe H, Howard PM, Naughten ER. The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis 2001; 24: 437-47.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 437-447
    • Yap, S.1    Rushe, H.2    Howard, P.M.3    Naughten, E.R.4
  • 82
    • 0028001103 scopus 로고
    • Molecular basis of phenotype expression in homocystinuria
    • Kraus JP. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 1994; 17: 383-90.
    • (1994) J Inherit Metab Dis , vol.17 , pp. 383-390
    • Kraus, J.P.1
  • 83
    • 0029933176 scopus 로고    scopus 로고
    • Coexistence of hereditary homocystinuria and factor V Leiden: Effect on thrombosis
    • Mandel H, Brenner B, Berant M, Rosenberg N. Coexistence of hereditary homocystinuria and factor V Leiden: Effect on thrombosis. N Engl J Med 1996; 334: 763-8.
    • (1996) N Engl J Med , vol.334 , pp. 763-768
    • Mandel, H.1    Brenner, B.2    Berant, M.3    Rosenberg, N.4
  • 87
    • 0025817560 scopus 로고
    • Inborn errors of metabolism: The essentials of clinical diagnosis
    • Roth KS. Inborn errors of metabolism: The essentials of clinical diagnosis. Clin Pediatr 1991; 30: 183-90.
    • (1991) Clin Pediatr , vol.30 , pp. 183-190
    • Roth, K.S.1
  • 89
    • 0031015353 scopus 로고    scopus 로고
    • Pyridoxine dependency: Update
    • Gordon N. Pyridoxine dependency: Update. Dev Med Child Neurol 1997; 39: 63-5.
    • (1997) Dev Med Child Neurol , vol.39 , pp. 63-65
    • Gordon, N.1
  • 90
    • 0034769938 scopus 로고    scopus 로고
    • The ketogenic diet: An effective medical therapy with side effects
    • Wheless JW. The ketogenic diet: An effective medical therapy with side effects. J Child Neurol 2001; 16: 633-5.
    • (2001) J Child Neurol , vol.16 , pp. 633-635
    • Wheless, J.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.