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Journal Abstract Search

102 related items for PubMed ID: 3104678

  • 1. A decrease in glycine cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency.
    Yoshino M, Koga Y, Yamashita F.
    J Inherit Metab Dis; 1986; 9(4):399-400. PubMed ID: 3104678
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  • 2. A defect in branched-chain amino acid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency.
    Taylor J, Robinson BH, Sherwood WG.
    Pediatr Res; 1978 Jan; 12(1):60-2. PubMed ID: 643378
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  • 3. Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction.
    Sakaguchi Y, Yoshino M, Aramaki S, Yoshida I, Yamashita F, Kuhara T, Matsumoto I, Hayashi T.
    Eur J Pediatr; 1986 Sep; 145(4):271-4. PubMed ID: 3769994
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  • 7. Congenital lactic acidosis, alpha-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, Charpentier C, Marsac C, Rocchiccioli F, Amedee-Manesme O, Coude FX, Frezal J, Robinson BH.
    Acta Paediatr Scand; 1982 Jan; 71(1):167-71. PubMed ID: 6897145
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  • 8. Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.
    Kuhara T, Inoue Y, Shinka T, Matsumoto M, Matsumoto I, Yoshino M, Okada S.
    J Inherit Metab Dis; 1984 Jan; 7 Suppl 2():115-6. PubMed ID: 6434859
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  • 9. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
    Stöckler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F.
    Metabolism; 1997 Oct; 46(10):1189-93. PubMed ID: 9322805
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  • 12. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
    Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E.
    Pediatr Res; 2000 Dec; 48(6):852-5. PubMed ID: 11102558
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  • 16. A block in glycine cleavage reaction as a common mechanism in ketotic and nonketotic hyperglycinemia.
    Tada K.
    Pediatr Res; 1974 Jul; 8(7):721-3. PubMed ID: 4837569
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  • 17. [Atypical course of a multiple acyl-CoA-dehydrogenase deficiency].
    Rose M, Matern D, Millington DS, Lehnert W.
    Klin Padiatr; 1999 Jul; 211(5):413-6. PubMed ID: 10572901
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  • 20. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
    de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P.
    Pediatr Res; 2009 Jul; 66(1):91-5. PubMed ID: 19342984
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