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Journal Abstract Search

107 related items for PubMed ID: 10590436

  • 1. First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
    Rouillac C, Aral B, Fouque F, Marchant D, Saudubray JM, Dumez Y, Lindsay G, Abitbol M, Dufier JL, Marsac C, Benelli C.
    Prenat Diagn; 1999 Dec; 19(12):1160-4. PubMed ID: 10590436
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  • 2. Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
    Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Créau N, Kamoun P, Marsac C.
    Am J Hum Genet; 1997 Dec; 61(6):1318-26. PubMed ID: 9399911
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  • 5. Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
    Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH.
    Hum Mol Genet; 1998 Mar; 7(3):501-5. PubMed ID: 9467010
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  • 6. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
    Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
    Eur J Pediatr; 1999 Oct; 158(10):853-7. PubMed ID: 10486093
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  • 11. Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
    De Meirleir L, Lissens W, Vamos E, Liebaers I.
    Hum Genet; 1992 Mar; 88(6):649-52. PubMed ID: 1551669
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  • 12. Leigh syndrome: clinical features and biochemical and DNA abnormalities.
    Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR.
    Ann Neurol; 1996 Mar; 39(3):343-51. PubMed ID: 8602753
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  • 13. 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; 25(3):323-4. PubMed ID: 15712224
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  • 14. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
    De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I.
    Pediatr Res; 1994 Dec; 36(6):707-12. PubMed ID: 7898978
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  • 15. Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.
    Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW.
    J Clin Invest; 1990 Jun; 85(6):1821-4. PubMed ID: 2112155
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  • 16. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
    Ito M, Huq AH, Naito E, Saijo T, Takeda E, Kuroda Y.
    J Inherit Metab Dis; 1992 Jun; 15(6):848-56. PubMed ID: 1338114
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  • 17. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
    Chun K, MacKay N, Petrova-Benedict R, Robinson BH.
    Hum Mol Genet; 1993 Apr; 2(4):449-54. PubMed ID: 8504306
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  • 19. Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
    Marsac C, Benelli C, Desguerre I, Diry M, Fouque F, De Meirleir L, Ponsot G, Seneca S, Poggi F, Saudubray JM, Zabot MT, Fontan D, Lissens W.
    Hum Genet; 1997 Jun; 99(6):785-92. PubMed ID: 9187674
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