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Items: 1 to 20 of 199

1.

An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.

Takakubo F, Cartwright P, Hoogenraad N, Thorburn DR, Collins F, Lithgow T, Dahl HH.

Am J Hum Genet. 1995 Oct;57(4):772-80.

2.

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
3.

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
4.

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
5.
6.

Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.

Fujii T, Van Coster RN, Old SE, Medori R, Winter S, Gubits RM, Matthews PM, Brown RM, Brown GK, Dahl HH, et al.

Ann Neurol. 1994 Jul;36(1):83-9.

PMID:
8024267
7.

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.

Wexler ID, Hemalatha SG, Liu TC, Berry SA, Kerr DS, Patel MS.

Pediatr Res. 1992 Aug;32(2):169-74.

PMID:
1508605
8.

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
9.

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.

PMID:
7692352
10.

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

Dahl HH, Maragos C, Brown RM, Hansen LL, Brown GK.

Am J Hum Genet. 1990 Aug;47(2):286-93.

11.

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
12.
13.

Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

Dahl HH, Brown GK.

Hum Mutat. 1994;3(2):152-5. No abstract available.

PMID:
8199595
14.

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.

Naito E, Ito M, Yokota I, Matsuda J, Yara A, Kuroda Y.

Hum Mol Genet. 1994 Jul;3(7):1193-4. No abstract available.

PMID:
7981697
15.

A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).

Takakubo F, Thorburn DR, Dahl HH.

Hum Mol Genet. 1993 Nov;2(11):1961-2. No abstract available.

PMID:
8281161
16.

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

Hansen LL, Horn N, Dahl HH, Kruse TA.

Hum Mol Genet. 1994 Jun;3(6):1021-2. No abstract available.

PMID:
7545958
17.
18.

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
19.

Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH.

Am J Hum Genet. 1991 Aug;49(2):414-20.

20.

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

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