Wanders RJ - Search Results

1

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy.

Ferdinandusse S, Barker S, Lachlan K, Duran M, Waterham HR, Wanders RJ, Hammans S. Ferdinandusse S, et al. Among authors: wanders rj. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):310-2. doi: 10.1136/jnnp.2009.176255. J Neurol Neurosurg Psychiatry. 2010. PMID: 20185470 Free article.

2

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.

3

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. Among authors: wanders rj. J Inherit Metab Dis. 1991;14(5):681-4. doi: 10.1007/BF01799934. J Inherit Metab Dis. 1991. PMID: 1779614

4

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

Wanders RJ, IJlst L, van Gennip AH, Jakobs C, de Jager JP, Dorland L, van Sprang FJ, Duran M. Wanders RJ, et al. J Inherit Metab Dis. 1990;13(3):311-4. doi: 10.1007/BF01799383. J Inherit Metab Dis. 1990. PMID: 2122092 No abstract available.

5

Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method.

Wanders RJ, Zoeters PH, Schutgens RB, de Klerk JB, Duran M, Wadman SK, van Sprang FJ, Hemmes AM, Voorbrood BS. Wanders RJ, et al. Clin Chim Acta. 1990 Aug 31;189(3):327-34. doi: 10.1016/0009-8981(90)90314-i. Clin Chim Acta. 1990. PMID: 2225463

6

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Barth PG, Hoffmann GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, et al. Barth PG, et al. Among authors: wanders rj. J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907. J Inherit Metab Dis. 1993. PMID: 8412018

7

Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease.

Costa CG, Verhoeven NM, Kneepkens CM, Douwes AC, Wanders RJ, de Almeida IT, Duran M, Jakobs C. Costa CG, et al. Among authors: wanders rj. J Inherit Metab Dis. 1996;19(2):177-80. doi: 10.1007/BF01799423. J Inherit Metab Dis. 1996. PMID: 8739959 No abstract available.

8

Cerebellar hypoplasia in respiratory chain dysfunction.

Lincke CR, van den Bogert C, Nijtmans LG, Wanders RJ, Tamminga P, Barth PG. Lincke CR, et al. Among authors: wanders rj. Neuropediatrics. 1996 Aug;27(4):216-8. doi: 10.1055/s-2007-973792. Neuropediatrics. 1996. PMID: 8892374

9

X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy.

van Geel BM, Assies J, Wanders RJ, Barth PG. van Geel BM, et al. Among authors: wanders rj. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):4-14. doi: 10.1136/jnnp.63.1.4. J Neurol Neurosurg Psychiatry. 1997. PMID: 9221959 Free PMC article. Review.

10

Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitines.

Ventura FV, Costa CG, IJlst L, Dorland L, Duran M, Jakobs C, de Almeida IT, Wanders RJ. Ventura FV, et al. Among authors: wanders rj. J Inherit Metab Dis. 1997 Jul;20(3):423-6. doi: 10.1023/a:1005315003913. J Inherit Metab Dis. 1997. PMID: 9266372 No abstract available.

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