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Items: 1 to 20 of 263

1.

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.

Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK.

Dev Med Child Neurol. 2006 Sep;48(9):756-60.

2.

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. Review.

PMID:
10679936
3.

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK.

Ann Neurol. 2005 Aug;58(2):234-41.

PMID:
16049940
4.

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. Review.

PMID:
15712224
5.

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH.

Am J Med Genet A. 2004 Nov 15;131(1):59-66.

PMID:
15384102
6.

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.

Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18.

PMID:
21914562
8.

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.

PMID:
8504306
9.
10.

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.

PMID:
10486093
11.

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.

PMID:
8664900
12.

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.

Head RA, de Goede CG, Newton RW, Walter JH, McShane MA, Brown RM, Brown GK.

Dev Med Child Neurol. 2004 Oct;46(10):710-2.

13.

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.

PMID:
8032855
15.

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.

PMID:
9187674
16.

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.

Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA.

Neuropediatrics. 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084.

17.

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.

Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20.

PMID:
22766002
18.

[Pyruvate dehydrogenase deficiency and cerebral malformations].

Eirís J, Alvarez-Moreno A, Briones P, Alonso-Alonso C, Castro-Gago M.

Rev Neurol. 1996 Oct;24(134):1272-5. Spanish.

PMID:
8983728
19.

Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.

Morten KJ, Caky M, Matthews PM.

Neurology. 1998 Nov;51(5):1324-30.

PMID:
9818854
20.

Pyruvate dehydrogenase E3 binding protein deficiency.

Brown RM, Head RA, Brown GK.

Hum Genet. 2002 Feb;110(2):187-91. Epub 2002 Jan 22.

PMID:
11935326

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