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Items: 1 to 20 of 137

1.

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
2.

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
3.

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
4.

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
5.

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.

6.

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS.

Hum Mol Genet. 1995 Feb;4(2):315-8. No abstract available.

PMID:
7757088
7.

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
8.

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
9.

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
10.

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
11.
12.

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.

13.

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.

Lissens W, Desguerre I, Benelli C, Marsac C, Fouque F, Haenggeli C, Ponsot G, Seneca S, Liebaers I, De Meirleir L.

Hum Mol Genet. 1995 Feb;4(2):307-8. No abstract available.

PMID:
7757085
14.

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
15.
16.

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
17.

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
18.
19.

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.

Fujii T, Garcia Alvarez MB, Sheu KF, Kranz-Eble PJ, De Vivo DC.

Pediatr Neurol. 1996 May;14(4):328-34.

PMID:
8962591
20.

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.

Takakubo F, Thorburn DR, Brown RM, Brown GK, Dahl HH.

Hum Mutat. 1995;6(3):274-5. No abstract available.

PMID:
8535453

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