Wijburg FA - Search Results

1

High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme.

ten Hoedt AE, van Kempen AA, Boelen A, Duran M, Kemper-Proper EA, Oey-Spauwen MJ, Wijburg FA, Bosch AM. ten Hoedt AE, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2007 Nov;30(6):978. doi: 10.1007/s10545-007-0701-0. Epub 2007 Sep 16. J Inherit Metab Dis. 2007. PMID: 17876719

2

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.

Wanders RJ, Wijburg FA, Ruiter J, Trijbels JM, Ruitenbeek W, Sengers RC, Bakkeren JA, Feller N. Wanders RJ, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1992;15(1):84-91. doi: 10.1007/BF01800349. J Inherit Metab Dis. 1992. PMID: 1316525

3

NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.

Wijburg FA, Wanders RJ, van Lie Peters EM, Vos GD, Loggers HG, Bolhuis PA, Herzberg NH, Ruitenbeek W, van Wilsem A, ten Houten R, et al. Wijburg FA, et al. J Inherit Metab Dis. 1991;14(3):297-300. doi: 10.1007/BF01811686. J Inherit Metab Dis. 1991. PMID: 1770777 No abstract available.

4

Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts.

Wijburg FA, Feller N, Ruitenbeek W, Trijbels JM, Sengers RC, Scholte HR, Przyrembel H, Wanders RJ. Wijburg FA, et al. J Inherit Metab Dis. 1990;13(3):355-8. doi: 10.1007/BF01799394. J Inherit Metab Dis. 1990. PMID: 2172645 No abstract available.

5

Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.

Wijburg FA, Barth PG, Ruitenbeek W, Wanders RJ, Vos GD, Ploos van Amstel SL, Schutgens RB. Wijburg FA, et al. J Inherit Metab Dis. 1989;12 Suppl 2:349-51. doi: 10.1007/BF03335419. J Inherit Metab Dis. 1989. PMID: 2512441 No abstract available.

6

Vitamin C treatment in Menkes' disease: failure to affect biochemical and clinical parameters.

de Groot CJ, Wijburg FA, Barth PG, Bolhuis PA, Peelen W, Abeling NG, van den Hamer CJ. de Groot CJ, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1989;12 Suppl 2:389-92. doi: 10.1007/BF03335431. J Inherit Metab Dis. 1989. PMID: 2512452 No abstract available.

7

Clinical effects of serine medication in non-ketotic hyperglycinaemia due to deficiency of P-protein of the glycine cleavage complex.

Wijburg FA, de Groot CJ, Schutgens RB, Barth PG, Tada K. Wijburg FA, et al. J Inherit Metab Dis. 1988;11 Suppl 2:218-20. doi: 10.1007/BF01804240. J Inherit Metab Dis. 1988. PMID: 3141706 No abstract available.

8

Liver transplantation in tyrosinaemia type I: the Groningen experience.

Wijburg FA, Reitsma WC, Slooff MJ, van Spronsen FJ, Koetse HA, Reijngoud DJ, Smit GP, Berger R, Bijleveld CM. Wijburg FA, et al. J Inherit Metab Dis. 1995;18(2):115-8. doi: 10.1007/BF00711743. J Inherit Metab Dis. 1995. PMID: 7564223 No abstract available.

9

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

Wanders RJ, Romeijn GJ, Wijburg F, Hennekam RC, de Jong J, Wevers RA, Dacremont G. Wanders RJ, et al. J Inherit Metab Dis. 1997 Jul;20(3):432-6. doi: 10.1023/a:1005371104822. J Inherit Metab Dis. 1997. PMID: 9266374 No abstract available.

10

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR, Wijburg FA, Hennekam RC, Vreken P, Poll-The BT, Dorland L, Duran M, Jira PE, Smeitink JA, Wevers RA, Wanders RJ. Waterham HR, et al. Among authors: wijburg fa. Am J Hum Genet. 1998 Aug;63(2):329-38. doi: 10.1086/301982. Am J Hum Genet. 1998. PMID: 9683613 Free PMC article.

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