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Volumn 24, Issue 5, 1997, Pages 599-601

Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE; LACTIC ACID; PYRUVATE DEHYDROGENASE;

EID: 0030926196     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-199705000-00019     Document Type: Article
Times cited : (20)

References (22)
  • 1
    • 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. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 1995:1501-33.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , pp. 1501-1533
    • Roe, C.R.1    Coates, P.M.2
  • 3
    • 0026480006 scopus 로고
    • Fatal infantile liver failure associated with mitochondrial DNA depletion
    • Mazziotta MRM, Ricci E, Bertini E, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr 1992;121:896-901.
    • (1992) J Pediatr , vol.121 , pp. 896-901
    • Mazziotta, M.R.M.1    Ricci, E.2    Bertini, E.3
  • 4
    • 0027679504 scopus 로고
    • Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver
    • Bioulac Sage P, Parrot-Roulaud F, Mazat JP, et al. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): a light and electron microscopic study of the liver. Hepatology 1993;18:839-46.
    • (1993) Hepatology , vol.18 , pp. 839-846
    • Bioulac Sage, P.1    Parrot-Roulaud, F.2    Mazat, J.P.3
  • 6
    • 0018939283 scopus 로고
    • The genetic heterogeneity of lactic acidosis: Occurrence of recognizable inborn errors of metabolism in a pediatric population with lactic acidosis
    • Robinson BH, Taylor J, Sherwood WG. The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in a pediatric population with lactic acidosis. Pediatr Res 1980;14:956-62.
    • (1980) Pediatr Res , vol.14 , pp. 956-962
    • Robinson, B.H.1    Taylor, J.2    Sherwood, W.G.3
  • 7
    • 77956998069 scopus 로고
    • Purification and resolution of the pyruvate dehydrogenase complex
    • Reed LJ, Wilms CR. Purification and resolution of the pyruvate dehydrogenase complex. Methods Enzymol 1966;9: 247-65.
    • (1966) Methods Enzymol , vol.9 , pp. 247-265
    • Reed, L.J.1    Wilms, C.R.2
  • 8
    • 0014620828 scopus 로고
    • An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin
    • Hoppel C, Cooper C. An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin. Arch Biochem Biophys 1969;135:173-83.
    • (1969) Arch Biochem Biophys , vol.135 , pp. 173-183
    • Hoppel, C.1    Cooper, C.2
  • 9
    • 0017198111 scopus 로고
    • Steady state kinetics of high molecular weight (type I) NADH dehydrogenase
    • Dooijewaard G, Slater EC. Steady state kinetics of high molecular weight (type I) NADH dehydrogenase. Biochem Biophys Acta 1976;440:1-15.
    • (1976) Biochem Biophys Acta , vol.440 , pp. 1-15
    • Dooijewaard, G.1    Slater, E.C.2
  • 10
    • 0022350446 scopus 로고
    • Differential investigation of the capacity of succinate oxidation in human skeletal muscle
    • Fischer JC, Ruitenbeek W, Berden JA, et al. Differential investigation of the capacity of succinate oxidation in human skeletal muscle. Clin Chim Acta 1985;153:23-26.
    • (1985) Clin Chim Acta , vol.153 , pp. 23-26
    • Fischer, J.C.1    Ruitenbeek, W.2    Berden, J.A.3
  • 11
    • 78651001645 scopus 로고
    • A microspectrophotometric method for the determination of cytochrome oxidase
    • Cooperstein SJ, Lazarow A. A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 1951;189:665-70.
    • (1951) J Biol Chem , vol.189 , pp. 665-670
    • Cooperstein, S.J.1    Lazarow, A.2
  • 12
    • 77957010982 scopus 로고
    • Citrate synthase
    • Srere PA. Citrate synthase. Methods Enzymol 1969;13:3-11.
    • (1969) Methods Enzymol , vol.13 , pp. 3-11
    • Srere, P.A.1
  • 13
    • 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;62:327-55.
    • (1983) J Neurol Sci , vol.62 , pp. 327-355
    • Barth, P.G.1    Scholte, H.R.2    Berden, J.A.3
  • 14
    • 0030769124 scopus 로고    scopus 로고
    • Lipoamide dehydrogenase deficiency in Ashkenazi-Jews: An insertion mutation in the mitochondrial leader sequence
    • in press
    • Elpeleg ON, Shaag A, Glustein JZ, et al. Lipoamide dehydrogenase deficiency in Ashkenazi-Jews: an insertion mutation in the mitochondrial leader sequence. Hum Mutation (in press).
    • Hum Mutation
    • Elpeleg, O.N.1    Shaag, A.2    Glustein, J.Z.3
  • 15
    • 0017758252 scopus 로고
    • Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and α-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 α-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy. Pediatr Res 1977;11: 1198-202.
    • (1977) Pediatr Res , vol.11 , pp. 1198-1202
    • Robinson, B.H.1    Taylor, J.2    Sherwood, W.G.3
  • 16
    • 0019476322 scopus 로고
    • Lactic acidemia, neurological deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency
    • Robinson BH, Taylor J, Kahler SG, Kirkman HN. Lactic acidemia, neurological deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency. Eur J Pediatr 1981;136:35-9.
    • (1981) Eur J Pediatr , vol.136 , pp. 35-39
    • Robinson, B.H.1    Taylor, J.2    Kahler, S.G.3    Kirkman, H.N.4
  • 17
    • 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 A, 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; 71:167-71.
    • (1982) Acta Paediatr Scand , vol.71 , pp. 167-171
    • Munnich, A.1    Saudubray, J.M.2    Taylor, J.3
  • 18
    • 0021355981 scopus 로고
    • Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favourable response to treatment with oral lipoic acid
    • Matalon R, Stumpf DA, Michals K, et al. Lipoamide dehydrogenase deficiency with primary lactic acidosis: favourable response to treatment with oral lipoic acid. J Pediatr 1983; 104:65-9.
    • (1983) J Pediatr , vol.104 , pp. 65-69
    • Matalon, R.1    Stumpf, D.A.2    Michals, K.3
  • 19
    • 0022453949 scopus 로고
    • Dihydrolipoyl dehydrogenase deficiency: A therapeutic trial with branched-chain amino acid restriction
    • Sakaguchi Y, Yoshino M, Aramaki S, et al. Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction. Eur J Pediatr 1986;145:271-4.
    • (1986) Eur J Pediatr , vol.145 , pp. 271-274
    • Sakaguchi, Y.1    Yoshino, M.2    Aramaki, S.3
  • 20
    • 0028795459 scopus 로고
    • Favourable outcome of congenital lactic acidemia due to lipoamide dehydrogenase deficiency
    • Elpeleg ON, Ruitenbeek W, Jakobs C, et al. Favourable outcome of congenital lactic acidemia due to lipoamide dehydrogenase deficiency. J Pediatr 1995;126:72-4.
    • (1995) J Pediatr , vol.126 , pp. 72-74
    • Elpeleg, O.N.1    Ruitenbeek, W.2    Jakobs, C.3
  • 21
    • 0025362930 scopus 로고
    • Recurrent familial Reye-like syndrome with a new complex amino and organic aciduria
    • Elpeleg ON, Christensen E, Hurvitz H, Branski D. Recurrent familial Reye-like syndrome with a new complex amino and organic aciduria. Eur J Pediatr 1990;149:709-12.
    • (1990) Eur J Pediatr , vol.149 , pp. 709-712
    • Elpeleg, O.N.1    Christensen, E.2    Hurvitz, H.3    Branski, D.4
  • 22
    • 0031046624 scopus 로고    scopus 로고
    • Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria
    • Elpeleg ON, Saada AB, Shaag A, et al. Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria. Muscle & Nerve 1997;20:238-40.
    • (1997) Muscle & Nerve , vol.20 , pp. 238-240
    • Elpeleg, O.N.1    Saada, A.B.2    Shaag, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.