Wanders RJ - Search Results

1

Ketones and inborn errors of metabolism: old friends revisited.

Wüst RC, Visser G, Wanders RJ, Houtkooper RH. Wüst RC, et al. Among authors: wanders rj. J Inherit Metab Dis. 2017 Jan;40(1):3-4. doi: 10.1007/s10545-016-9997-y. J Inherit Metab Dis. 2017. PMID: 27830424 No abstract available.

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. J Inherit Metab Dis. 1992;15(1):84-91. doi: 10.1007/BF01800349. J Inherit Metab Dis. 1992. PMID: 1316525

3

Bifunctional enzyme deficiency: identification of a new type of peroxisomal disorder in a patient with an impairment in peroxisomal beta-oxidation of unknown aetiology by means of complementation analysis.

Wanders RJ, van Roermund CW, Brul S, Schutgens RB, Tager JM. Wanders RJ, et al. J Inherit Metab Dis. 1992;15(3):385-8. doi: 10.1007/BF02435983. J Inherit Metab Dis. 1992. PMID: 1357231 No abstract available.

4

Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.

Smeitink JA, Beemer FA, Espeel M, Donckerwolcke RA, Jakobs C, Wanders RJ, Schutgens RB, Roels F, Duran M, Dorland L, et al. Smeitink JA, et al. Among authors: wanders rj. J Inherit Metab Dis. 1992;15(3):377-80. doi: 10.1007/BF02435981. J Inherit Metab Dis. 1992. PMID: 1405474 No abstract available.

5

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. Among authors: wanders rj. J Inherit Metab Dis. 1991;14(3):297-300. doi: 10.1007/BF01811686. J Inherit Metab Dis. 1991. PMID: 1770777 No abstract available.

6

Octanoate and palmitate beta-oxidation in human leukocytes: implications for the rapid diagnosis of fatty acid beta-oxidation disorders.

Wanders RJ, Ijlst L, van Elk E, de Klerk JB, Przyrembel H. Wanders RJ, et al. J Inherit Metab Dis. 1991;14(3):317-20. doi: 10.1007/BF01811692. J Inherit Metab Dis. 1991. PMID: 1770782 No abstract available.

7

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients.

Wanders RJ, Ijlst L, Duran M, Jakobs C, de Klerk JB, Przyrembel H, Rocchiccioli F, Aubourg P. Wanders RJ, et al. J Inherit Metab Dis. 1991;14(3):325-8. doi: 10.1007/BF01811694. J Inherit Metab Dis. 1991. PMID: 1770784 No abstract available.

8

Bile acids in amniotic fluid: promising metabolites for the prenatal diagnosis of peroxisomal disorders.

Stellaard F, Kleijer WJ, Wanders RJ, Schutgens RB, Jakobs C. Stellaard F, et al. Among authors: wanders rj. J Inherit Metab Dis. 1991;14(3):353-6. doi: 10.1007/BF01811701. J Inherit Metab Dis. 1991. PMID: 1770790 No abstract available.

9

A far advanced case of gyrate atrophy in a 12-year-old girl.

Bakker HD, Abeling NG, van Schooneveld MJ, Wanders RJ, van Gennip AH. Bakker HD, et al. Among authors: wanders rj. J Inherit Metab Dis. 1991;14(3):379-81. doi: 10.1007/BF01811708. J Inherit Metab Dis. 1991. PMID: 1770797 No abstract available.

10

The inborn errors of peroxisomal beta-oxidation: a review.

Wanders RJ, van Roermund CW, Schutgens RB, Barth PG, Heymans HS, van den Bosch H, Tager JM. Wanders RJ, et al. J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330. J Inherit Metab Dis. 1990. PMID: 2109148 Review.

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