Ruitenbeek W - Search Results

1

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: ruitenbeek w. 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

2

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: ruitenbeek w. Eur J Pediatr. 1999 Oct;158(10):853-7. doi: 10.1007/s004310051222. Eur J Pediatr. 1999. PMID: 10486093

3

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.

Wilichowski E, Korenke GC, Ruitenbeek W, De Meirleir L, Hagendorff A, Janssen AJ, Lissens W, Hanefeld F. Wilichowski E, et al. Among authors: ruitenbeek w. J Neurol Sci. 1998 May 7;157(2):206-13. doi: 10.1016/s0022-510x(98)00068-9. J Neurol Sci. 1998. PMID: 9619647

4

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

de Vries DD, van Engelen BG, Gabreëls FJ, Ruitenbeek W, van Oost BA. de Vries DD, et al. Among authors: ruitenbeek w. Ann Neurol. 1993 Sep;34(3):410-2. doi: 10.1002/ana.410340319. Ann Neurol. 1993. PMID: 8395787

5

Sudden infant death associated with defective oxidative phosphorylation.

Smeitink JA, Fischer JC, Ruitenbeek W, Duran M, Hofkamp M, Bentlage HA, Poll-The BT. Smeitink JA, et al. Among authors: ruitenbeek w. Lancet. 1993 Jun 19;341(8860):1601. doi: 10.1016/0140-6736(93)90741-x. Lancet. 1993. PMID: 8099679 No abstract available.

6

Pontocerebellar hypoplasia associated with respiratory-chain defects.

de Koning TJ, de Vries LS, Groenendaal F, Ruitenbeek W, Jansen GH, Poll-The BT, Barth PG. de Koning TJ, et al. Among authors: ruitenbeek w. Neuropediatrics. 1999 Apr;30(2):93-5. doi: 10.1055/s-2007-973467. Neuropediatrics. 1999. PMID: 10401692

7

Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi.

Ruitenbeek W, Sengers R, Albani M, Trijbels F, Janssen A, van Diggelen O, Bakkeren J. Ruitenbeek W, et al. N Engl J Med. 1988 Oct 20;319(16):1095. doi: 10.1056/NEJM198810203191616. N Engl J Med. 1988. PMID: 2845269 No abstract available.

8

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

van Laack HL, Ruitenbeek W, Trijbels JM, Sengers RC, Gabreëls FJ, Janssen AJ, Kerkhof CM. van Laack HL, et al. Among authors: ruitenbeek w. Clin Chim Acta. 1988 Jan 15;171(1):109-18. doi: 10.1016/0009-8981(88)90296-3. Clin Chim Acta. 1988. PMID: 3127087

9

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J. van den Heuvel L, et al. Among authors: ruitenbeek w. Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716. Am J Hum Genet. 1998. PMID: 9463323 Free PMC article.

10

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA. Sperl W, et al. Among authors: ruitenbeek w. Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401. Eur J Pediatr. 1990. PMID: 2189731 Review.

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