메뉴 건너뛰기




Volumn 20, Issue 2, 1997, Pages 238-240

Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria

Author keywords

lactic acidemia; lipoamide dehydrogenase deficiency; myoglobinuria

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE;

EID: 0031046624     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199702)20:2<238::AID-MUS18>3.0.CO;2-Z     Document Type: Article
Times cited : (24)

References (14)
  • 1
    • 0021987875 scopus 로고
    • Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes
    • De Marcucci OL, Hunter A, Lindsay JG: Low immunogenicity of the common lipoamide dehydrogenase subunit (E3) of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase multienzyme complexes. Biochem J 1985;226: 509-517.
    • (1985) Biochem J , vol.226 , pp. 509-517
    • De Marcucci, O.L.1    Hunter, A.2    Lindsay, J.G.3
  • 3
    • 0028795459 scopus 로고
    • Favourable outcome of congenital lactic acidemia due to lipoamide dehydrogenase deficiency
    • Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, Devivo D, Amir N: Favourable outcome of congenital lactic acidemia due to lipoamide dehydrogenase deficiency. J Pediatr 1995; 126:72-74.
    • (1995) J Pediatr , vol.126 , pp. 72-74
    • Elpeleg, O.N.1    Ruitenbeek, W.2    Jakobs, C.3    Barash, V.4    Devivo, D.5    Amir, N.6
  • 4
    • 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, Anikster Y, Joseph A, Saada A: Lipoamide dehydrogenase deficiency in Ashkenazi-Jews: an insertion mutation in the mitochondrial leader sequence. Hum Mutat (in press).
    • Hum Mutat
    • Elpeleg, O.N.1    Shaag, A.2    Glustein, J.Z.3    Anikster, Y.4    Joseph, A.5    Saada, A.6
  • 6
    • 0027145130 scopus 로고
    • Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins
    • Hall RE, Henrikson KG, Lewis SF, Haller RG, Kennaway NG: Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. J Clin Invest 1993;92:2660-2666.
    • (1993) J Clin Invest , vol.92 , pp. 2660-2666
    • Hall, R.E.1    Henrikson, K.G.2    Lewis, S.F.3    Haller, R.G.4    Kennaway, N.G.5
  • 7
    • 0026469993 scopus 로고
    • Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene
    • Johanning GL, Morris JI, Madhusudhan KT, Samols D, Patel MS: Characterization of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene. Proc Natl Acad Sci USA 1992;89:10964-10968.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 10964-10968
    • Johanning, G.L.1    Morris, J.I.2    Madhusudhan, K.T.3    Samols, D.4    Patel, M.S.5
  • 9
    • 0021355981 scopus 로고
    • Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favourable response to treatment with oral lipoic acid
    • Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI: Lipoamide dehydrogenase deficiency with primary lactic acidosis: favourable response to treatment with oral lipoic acid. J Pediatr 1983;104:65-69.
    • (1983) J Pediatr , vol.104 , pp. 65-69
    • Matalon, R.1    Stumpf, D.A.2    Michals, K.3    Hart, R.D.4    Parks, J.K.5    Goodman, S.I.6
  • 11
    • 0141610413 scopus 로고
    • Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy
    • Ogashara S, Engel AG, Frens D, Mack D: Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci USA 1989;86:2379-2382.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2379-2382
    • Ogashara, S.1    Engel, A.G.2    Frens, D.3    Mack, D.4
  • 12
    • 0028221809 scopus 로고
    • Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria
    • Ogilvie I, Pourfarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM: Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 1994;44:467-473.
    • (1994) Neurology , vol.44 , pp. 467-473
    • Ogilvie, I.1    Pourfarzam, M.2    Jackson, S.3    Stockdale, C.4    Bartlett, K.5    Turnbull, D.M.6
  • 14
    • 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;11:1198-1202.
    • (1977) Pediatr Res , vol.11 , pp. 1198-1202
    • Robinson, B.H.1    Taylor, J.2    Sherwood, W.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.