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Items: 1 to 20 of 238

1.

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
2.

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

McWilliam CA, Ridout CK, Brown RM, McWilliam RC, Tolmie J, Brown GK.

Eur J Paediatr Neurol. 2010 Jul;14(4):349-53. doi: 10.1016/j.ejpn.2009.11.001. Epub 2009 Dec 21.

PMID:
20022530
3.

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.

4.

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.

Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.

PMID:
23021068
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.

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
7.

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK.

Hum Genet. 2004 Jul;115(2):123-7. Epub 2004 May 11.

PMID:
15138885
8.

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
9.

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.

11.

[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. Spanish.

12.

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.

Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK.

Hum Mutat. 2003 Dec;22(6):496-7.

PMID:
14635113
13.

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.

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

J Neurol Sci. 2002 Sep 15;201(1-2):33-7.

PMID:
12163191
14.

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
15.

Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient.

Jacobia SJ, Korotchkina LG, Patel MS.

Biochim Biophys Acta. 2002 Jan 2;1586(1):32-42.

16.

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
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.

PMID:
8504306
18.

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.

20.

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
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