Wijburg FA - Search Results

1

Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium. Heringer J, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2016 May;39(3):341-353. doi: 10.1007/s10545-015-9907-8. Epub 2015 Dec 21. J Inherit Metab Dis. 2016. PMID: 26689403

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

Unusual clinical presentation in two boys with cytochrome c oxidase deficiency.

Hrebícek M, Zeman J, Petrák B, Kozich V, Hyánek J, Ruiter JP, Wanders RJ, Wijburg FA. Hrebícek M, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1992;15(3):320-2. doi: 10.1007/BF02435966. J Inherit Metab Dis. 1992. PMID: 1357227 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

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibroblasts by study of ATP-synthesis in digitonin-permeabilized cells.

Wanders RJ, Ruiter JP, Wijburg FA, Zeman J, Klement P, Houstek J. Wanders RJ, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1996;19(2):133-6. doi: 10.1007/BF01799412. J Inherit Metab Dis. 1996. PMID: 8739948 No abstract available.

9

Aromatic L-amino acid decarboxylase deficiency: a new case with a mild clinical presentation and unexpected laboratory findings.

Abeling NG, van Gennip AH, Barth PG, van Cruchten A, Westra M, Wijburg FA. Abeling NG, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1998 Jun;21(3):240-2. doi: 10.1023/a:1005307919767. J Inherit Metab Dis. 1998. PMID: 9686366 No abstract available.

10

Clinical features of galactokinase deficiency: a review of the literature.

Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Bosch AM, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2002 Dec;25(8):629-34. doi: 10.1023/a:1022875629436. J Inherit Metab Dis. 2002. PMID: 12705493 Review.

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