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Items: 1 to 20 of 34

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.

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
4.

Pyruvate dehydrogenase E1 alpha deficiency.

Brown GK.

J Inherit Metab Dis. 1992;15(4):625-33. Review.

PMID:
1528021
5.

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.

Miné M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):106-10. Epub 2006 Jul 13. Review.

PMID:
16843025
6.

Gene regulation and genetic defects in the pyruvate dehydrogenase complex.

Patel MS, Naik S, Wexler ID, Kerr DS.

J Nutr. 1995 Jun;125(6 Suppl):1753S-1757S. Review.

PMID:
7782940
7.

Pyruvate dehydrogenase deficiency and epilepsy.

Prasad C, Rupar T, Prasad AN.

Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9. Review.

PMID:
21908116
8.

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.

Dahl HH, Brown GK, Brown RM, Hansen LL, Kerr DS, Wexler ID, Patel MS, De Meirleir L, Lissens W, Chun K, et al.

Hum Mutat. 1992;1(2):97-102. Review.

PMID:
1301207
9.

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.

Robinson BH, MacKay N, Chun K, Ling M.

J Inherit Metab Dis. 1996;19(4):452-62. Review.

PMID:
8884569
10.

Genetic defects in human pyruvate dehydrogenase.

Ho L, Wexler ID, Kerr DS, Patel MS.

Ann N Y Acad Sci. 1989;573:347-59. Review.

PMID:
2517464
11.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW.

Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Review. Erratum in: Mol Genet Metab. 2012 Jul;106(3):384. Corrected and republished in: Mol Genet Metab. 2012 Jul;106(3):385-94.

12.

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA.

Eur J Pediatr. 1990 Apr;149(7):487-92. Review.

PMID:
2189731
13.

Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.

Naito E, Ito M, Yokota I, Saijo T, Chen S, Maehara M, Kuroda Y.

J Neurol Sci. 1999 Dec 1;171(1):56-9. Review.

PMID:
10567050
14.

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Dahl HH.

Am J Hum Genet. 1995 Mar;56(3):553-7. Review. No abstract available.

15.

The pyruvate dehydrogenase complex as a target for gene therapy.

Stacpoole PW, Owen R, Flotte TR.

Curr Gene Ther. 2003 Jun;3(3):239-45. Review.

PMID:
12762482
16.

[Pyruvate dehydrogenase complex deficiency].

Ito M, Kuroda Y.

Ryoikibetsu Shokogun Shirizu. 2001;(36):103-6. Review. Japanese. No abstract available.

PMID:
11596336
17.

Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.

Bhandary S, Aguan K.

Epilepsy Res. 2015 Oct;116:40-52. doi: 10.1016/j.eplepsyres.2015.07.002. Epub 2015 Jul 8. Review.

PMID:
26354166
18.

Defects of pyruvate metabolism and the Krebs cycle.

De Meirleir L.

J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4. Review.

PMID:
12597053
19.

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA.

J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20. Review.

PMID:
25526709
20.

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.

Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl HH.

Ann N Y Acad Sci. 1989;573:360-8. Review. No abstract available.

PMID:
2517465
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