Marsac C - Search Results

1

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. Marsac C, et al. J Pediatr. 1993 Dec;123(6):915-20. doi: 10.1016/s0022-3476(05)80387-7. J Pediatr. 1993. PMID: 8229524

2

Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.

Geoffroy V, Fouque F, Benelli C, Poggi F, Saudubray JM, Lissens W, Meirleir LD, Marsac C, Lindsay JG, Sanderson SJ. Geoffroy V, et al. Among authors: marsac c. Pediatrics. 1996 Feb;97(2):267-72. Pediatrics. 1996. PMID: 8584393 No abstract available.

3

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.

Rouillac C, Aral B, Fouque F, Marchant D, Saudubray JM, Dumez Y, Lindsay G, Abitbol M, Dufier JL, Marsac C, Benelli C. Rouillac C, et al. Among authors: marsac c. Prenat Diagn. 1999 Dec;19(12):1160-4. doi: 10.1002/(sici)1097-0223(199912)19:12<1160::aid-pd712>3.0.co;2-2. Prenat Diagn. 1999. PMID: 10590436

4

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. Fouque F, et al. Among authors: marsac c. Pediatr Res. 2003 May;53(5):793-9. doi: 10.1203/01.PDR.0000057987.46622.64. Epub 2003 Mar 5. Pediatr Res. 2003. PMID: 12621116

5

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. Marsac C, et al. Hum Genet. 1997 Jun;99(6):785-92. doi: 10.1007/s004390050449. Hum Genet. 1997. PMID: 9187674

6

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.

Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Créau N, Kamoun P, Marsac C. Aral B, et al. Among authors: marsac c. Am J Hum Genet. 1997 Dec;61(6):1318-26. doi: 10.1086/301653. Am J Hum Genet. 1997. PMID: 9399911 Free PMC article. Review.

7

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction.

Benelli C, Fouque F, Redonnet-Vernhet I, Malgat M, Fontan D, Marsac C, Dey R. Benelli C, et al. Among authors: marsac c. J Inherit Metab Dis. 2002 Aug;25(4):325-7. doi: 10.1023/a:1016570828778. J Inherit Metab Dis. 2002. PMID: 12227466

8

Disorders of the pyruvate dehydrogenase complex.

Stansbie D, Wallace SJ, Marsac C. Stansbie D, et al. Among authors: marsac c. J Inherit Metab Dis. 1986;9(2):105-19. doi: 10.1007/BF01799447. J Inherit Metab Dis. 1986. PMID: 3018357 Review.

9

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.

De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, Rodriguez D, Saudubray JM, Poggi F, Liebaers I. De Meirleir L, et al. Among authors: marsac c. Pediatr Res. 1994 Dec;36(6):707-12. doi: 10.1203/00006450-199412000-00004. Pediatr Res. 1994. PMID: 7898978

10

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. De Meirleir L, et al. Among authors: marsac c. J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066. J Inherit Metab Dis. 1998. PMID: 9501264

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