Wanders RJA - Search Results

1

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.

Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W. Sasarman F, et al. Among authors: wanders rja. J Inherit Metab Dis. 2022 May;45(3):445-455. doi: 10.1002/jimd.12486. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35174513

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

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. J Inherit Metab Dis. 1992;15(3):320-2. doi: 10.1007/BF02435966. J Inherit Metab Dis. 1992. PMID: 1357227 No abstract available.

4

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.

5

Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency.

ten Brink HJ, Wanders RJ, Stellaard F, Schutgens RB, Jakobs C. ten Brink HJ, et al. J Inherit Metab Dis. 1991;14(3):345-8. doi: 10.1007/BF01811699. J Inherit Metab Dis. 1991. PMID: 1722861 No abstract available.

6

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.

7

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.

8

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.

9

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Przyrembel H, Jakobs C, IJlst L, de Klerk JB, Wanders RJ. Przyrembel H, et al. J Inherit Metab Dis. 1991;14(5):674-80. doi: 10.1007/BF01799932. J Inherit Metab Dis. 1991. PMID: 1779613 No abstract available.

10

Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase.

ten Brink HJ, Poll-The BT, Saudubray JM, Wanders RJ, Jakobs C. ten Brink HJ, et al. J Inherit Metab Dis. 1991;14(5):681-4. doi: 10.1007/BF01799934. J Inherit Metab Dis. 1991. PMID: 1779614

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