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Journal Abstract Search

169 related items for PubMed ID: 8652022

  • 1. 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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  • 2. Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
    Matuda S, Kitano A, Sakaguchi Y, Yoshino M, Saheki T.
    Clin Chim Acta; 1984 Jun 27; 140(1):59-64. PubMed ID: 6430599
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  • 3. Lipoamide dehydrogenase deficiency with primary lactic acidosis: favorable response to treatment with oral lipoic acid.
    Matalon R, Stumpf DA, Michals K, Hart RD, Parks JK, Goodman SI.
    J Pediatr; 1984 Jan 27; 104(1):65-9. PubMed ID: 6418873
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  • 4. Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome.
    Elpeleg ON, Ruitenbeek W, Jakobs C, Barash V, De Vivo DC, Amir N.
    J Pediatr; 1995 Jan 27; 126(1):72-4. PubMed ID: 7815230
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  • 8. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 27; 25(3):323-4. PubMed ID: 15712224
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  • 12. Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.
    Miyabayashi S, Ito T, Narisawa K, Iinuma K, Tada K.
    Eur J Pediatr; 1985 Mar 27; 143(4):278-83. PubMed ID: 2985393
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  • 15. Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
    Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chrétien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P.
    Orphanet J Rare Dis; 2013 Dec 17; 8():192. PubMed ID: 24341803
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