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Items: 1 to 20 of 183

1.

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
2.

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
3.

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I.

Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1.

4.

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T.

Prague Med Rep. 2011;112(1):18-28.

PMID:
21470495
5.

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
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
7.

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E.

Eur J Pediatr. 2005 Feb;164(2):99-103. Epub 2004 Nov 19.

PMID:
15558317
8.

Pyruvate dehydrogenase complex deficiency and absence of subunit X.

De Meirleir L, Lissens W, Benelli C, Marsac C, De Klerk J, Scholte J, van Diggelen O, Kleijer W, Seneca S, Liebaers I.

J Inherit Metab Dis. 1998 Feb;21(1):9-16.

PMID:
9501264
9.

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.

Marsac C, Stansbie D, Bonne G, Cousin J, Jehenson P, Benelli C, Leroux JP, Lindsay G.

J Pediatr. 1993 Dec;123(6):915-20.

PMID:
8229524
10.

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.

PMID:
1293379
11.

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.

Shevell MI, Matthews PM, Scriver CR, Brown RM, Otero LJ, Legris M, Brown GK, Arnold DL.

Pediatr Neurol. 1994 Oct;11(3):224-9.

PMID:
7880337
12.

[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
13.

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.

14.
15.

A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.

Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1101-4. Epub 2009 Jul 29.

PMID:
19639391
16.

Pyruvate dehydrogenase E1 alpha deficiency.

Brown GK.

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

PMID:
1528021
17.

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
18.

Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.

Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Shinahara K, Kuroda Y.

Neuropediatrics. 2001 Dec;32(6):295-8.

PMID:
11870584
19.

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.

20.

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.

Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C.

Pediatr Res. 2003 May;53(5):793-9. Epub 2003 Mar 5.

PMID:
12621116

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