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Disorders of pyruvate metabolism.
De Meirleir L. De Meirleir L. Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Handb Clin Neurol. 2013. PMID: 23622387 Review.
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
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
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
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.
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
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. Among authors: de meirleir l. Hum Genet. 1997 Jun;99(6):785-92. doi: 10.1007/s004390050449. Hum Genet. 1997. PMID: 9187674
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
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
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