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4. Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene. Matthews PM; Brown RM; Otero L; Marchington D; Leonard JV; Brown GK Neurology; 1993 Oct; 43(10):2025-30. PubMed ID: 7692352 [TBL] [Abstract][Full Text] [Related]
5. Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. Matthews PM; Brown RM; Otero LJ; Marchington DR; LeGris M; Howes R; Meadows LS; Shevell M; Scriver CR; Brown GK Brain; 1994 Jun; 117 ( Pt 3)():435-43. PubMed ID: 8032855 [TBL] [Abstract][Full Text] [Related]
6. DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia. Matsuda J; Ito M; Naito E; Yokota I; Kuroda Y J Inherit Metab Dis; 1995; 18(5):534-46. PubMed ID: 8598634 [TBL] [Abstract][Full Text] [Related]
7. X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. Dahl HH; Hansen LL; Brown RM; Danks DM; Rogers JG; Brown GK J Inherit Metab Dis; 1992; 15(6):835-47. PubMed ID: 1293379 [TBL] [Abstract][Full Text] [Related]
8. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency. Sharma R; Sharrard MJ; Connolly DJ; Mordekar SR Dev Med Child Neurol; 2012 May; 54(5):469-71. PubMed ID: 21895644 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. 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 [TBL] [Abstract][Full Text] [Related]
11. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Chun K; MacKay N; Petrova-Benedict R; Federico A; Fois A; Cole DE; Robertson E; Robinson BH Am J Hum Genet; 1995 Mar; 56(3):558-69. PubMed ID: 7887409 [TBL] [Abstract][Full Text] [Related]
12. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene]. Blanco-Barca O; Gomez-Lado C; Rodrigo-Saez E; Curros-Novos C; Briones-Godino P; Eiris-Punal J; Castro-Gago M Rev Neurol; 2006 Sep 16-30; 43(6):341-5. PubMed ID: 16981164 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
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17. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. Lissens W; De Meirleir L; Seneca S; Liebaers I; Brown GK; Brown RM; Ito M; Naito E; Kuroda Y; Kerr DS; Wexler ID; Patel MS; Robinson BH; Seyda A Hum Mutat; 2000; 15(3):209-19. PubMed ID: 10679936 [TBL] [Abstract][Full Text] [Related]
18. Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. Lissens W; De Meirleir L; Seneca S; Benelli C; Marsac C; Poll-The BT; Briones P; Ruitenbeek W; van Diggelen O; Chaigne D; Ramaekers V; Liebaers I Hum Mutat; 1996; 7(1):46-51. PubMed ID: 8664900 [TBL] [Abstract][Full Text] [Related]
19. Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells. Ito M; Naito E; Yokota I; Takeda E; Matsuda J; Hirose M; Sejima H; Aiba H; Hojo H; Kuroda Y J Inherit Metab Dis; 1995; 18(5):547-57. PubMed ID: 8598635 [TBL] [Abstract][Full Text] [Related]
20. Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency. Fujii T; Garcia Alvarez MB; Sheu KF; Kranz-Eble PJ; De Vivo DC Pediatr Neurol; 1996 May; 14(4):328-34. PubMed ID: 8962591 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]