De Meirleir L - Search Results

1

Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.

Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L. Lissens W, et al. Among authors: de meirleir l. Eur J Pediatr. 1999 Oct;158(10):853-7. doi: 10.1007/s004310051222. Eur J Pediatr. 1999. PMID: 10486093

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 (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

4

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. Pediatr Res. 1994 Dec;36(6):707-12. doi: 10.1203/00006450-199412000-00004. Pediatr Res. 1994. PMID: 7898978

5

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.

Michotte A, De Meirleir L, Lissens W, Denis R, Wayenberg JL, Liebaers I, Brucher JM. Michotte A, et al. Among authors: de meirleir l. Acta Neuropathol. 1993;85(6):674-8. doi: 10.1007/BF00334680. Acta Neuropathol. 1993. PMID: 8337946

6

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.

De Meirleir L, Lissens W, Denis R, Wayenberg JL, Michotte A, Brucher JM, Vamos E, Gerlo E, Liebaers I. De Meirleir L, et al. Pediatr Neurol. 1993 May-Jun;9(3):216-20. doi: 10.1016/0887-8994(93)90088-t. Pediatr Neurol. 1993. PMID: 8352855

7

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

8

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

9

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.

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. Lissens W, et al. Among authors: de meirleir l. Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10679936 Review.

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