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Journal Abstract Search

124 related items for PubMed ID: 32746465

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  • 2. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
    Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P.
    Mol Genet Metab; 2013 May; 109(1):28-32. PubMed ID: 23478190
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  • 3. 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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  • 4. 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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  • 7. Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
    Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A.
    Eur J Pediatr; 2014 Feb; 173(2):243-5. PubMed ID: 23995961
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  • 8. Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2.
    Carrozzo R, Torraco A, Fiermonte G, Martinelli D, Di Nottia M, Rizza T, Vozza A, Verrigni D, Diodato D, Parisi G, Maiorana A, Rizzo C, Pierri CL, Zucano S, Piemonte F, Bertini E, Dionisi-Vici C.
    Mitochondrion; 2014 Sep; 18():49-57. PubMed ID: 25251739
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  • 9. Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.
    Craigen WJ.
    Pediatr Neurol; 1996 Jan; 14(1):69-71. PubMed ID: 8652022
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  • 10. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.
    Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, Onkenhout W, Brederoo P, Poorthuis BJ.
    J Pediatr; 1996 May; 128(5 Pt 1):679-83. PubMed ID: 8627441
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  • 14. Hypoglycemia in maple syrup urine disease.
    Donnell GN, Lieberman E, Shaw KN, Koch R.
    Am J Dis Child; 1967 Jan; 113(1):60-3. PubMed ID: 6015907
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  • 15. Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.
    Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S315-9. PubMed ID: 20652410
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  • 16. Family with intermittent maple syrup urine disease.
    Valman HB, Patrick AD, Seakins JW, Platt JW, Gompertz D.
    Arch Dis Child; 1973 Mar; 48(3):225-8. PubMed ID: 4693464
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  • 19. Lactic acidosis and hypoglycemia with ALL relapse following engrafted bone marrow transplant.
    Luscri N, Mauer M, Sarafoglou K, Moran A, Tolar J.
    Pediatr Blood Cancer; 2009 Aug; 53(2):223-5. PubMed ID: 19405138
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  • 20. Hazards of anesthesia and operation in maple-syrup-urine disease.
    Delaney A, Gal TJ.
    Anesthesiology; 1976 Jan; 44(1):83-6. PubMed ID: 931
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