De Meirleir L - Search Results

1

Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.

Briones P, López MJ, De Meirleir L, Ribes A, Rodés M, Martinez-Costa C, Peris M, Lissens W. Briones P, et al. Among authors: de meirleir l. J Inherit Metab Dis. 1996;19(6):795-6. doi: 10.1007/BF01799177. J Inherit Metab Dis. 1996. PMID: 8982956 No abstract available.

2

Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.

de Meirleir LJ, Lissens W, Vamos E, Liebaers I. de Meirleir LJ, et al. J Inherit Metab Dis. 1991;14(3):301-4. doi: 10.1007/BF01811687. J Inherit Metab Dis. 1991. PMID: 1770778 No abstract available.

3

Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.

De Meirleir L, Specola N, Seneca S, Lissens W. De Meirleir L, et al. J Inherit Metab Dis. 1998 Jun;21(3):224-6. doi: 10.1023/a:1005347501111. J Inherit Metab Dis. 1998. PMID: 9686362 No abstract available.

4

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A. Buján N, et al. Among authors: de meirleir l. J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi: 10.1007/s10545-013-9620-4. Epub 2013 Jun 18. J Inherit Metab Dis. 2014. PMID: 23774949

5

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: de klerk j. J Inherit Metab Dis. 1998 Feb;21(1):9-16. doi: 10.1023/a:1005351012066. J Inherit Metab Dis. 1998. PMID: 9501264

6

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group. Quintana E, et al. Among authors: de meirleir l. Clin Genet. 2010 May;77(5):474-82. doi: 10.1111/j.1399-0004.2009.01313.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002461

7

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.

De Meirleir L, Lissens W, Vamos E, Liebaers I. De Meirleir L, et al. Hum Genet. 1992 Mar;88(6):649-52. doi: 10.1007/BF02265291. Hum Genet. 1992. PMID: 1551669

8

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. Lissens W, et al. Among authors: de meirleir l. Hum Mutat. 1996;7(1):46-51. doi: 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8664900

9

Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.

Cardozo AK, De Meirleir L, Liebaers I, Lissens W. Cardozo AK, et al. Among authors: de meirleir l. Pediatr Res. 2000 Dec;48(6):748-53. doi: 10.1203/00006450-200012000-00008. Pediatr Res. 2000. PMID: 11102541

10

Importance of sequence analysis in NARP syndrome.

Seneca S, De Meirleir L, Liebaers I, Lissens W. Seneca S, et al. Among authors: de meirleir l. J Inherit Metab Dis. 1995;18(1):97-8. doi: 10.1007/BF00711391. J Inherit Metab Dis. 1995. PMID: 7623460 No abstract available.

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