R J A Wanders
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Explore the profile of R J A Wanders including associated specialties, affiliations and a list of published articles.
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88
Citations
1679
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Recent Articles
11.
Dercksen M, Duran M, IJlst L, Mienie L, Reinecke C, Ruiter J, et al.
J Inherit Metab Dis
. 2012 Feb;
35(6):1021-9.
PMID: 22350545
Isovaleric acidemia (IVA) is one of the most common organic acidemias found in South Africa. Since 1983, a significant number of IVA cases have been identified in approximately 20,000 Caucasian...
12.
van Maldegem B, Kloosterman S, Janssen W, Augustijn P, van der Lee J, IJlst L, et al.
Neuropediatrics
. 2011 Apr;
42(1):13-7.
PMID: 21500142
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of metabolism, most frequently associated with developmental delay and/or epilepsy. Most SCADD patients carry common SCAD-encoding gene ( ACADS)...
13.
Kapina V, Sedel F, Truffert A, Horvath J, Wanders R, Waterham H, et al.
Neurology
. 2010 Oct;
75(14):1300-2.
PMID: 20921516
No abstract available.
14.
van der Kolk J, Wijnberg I, Westermann C, Dorland L, de Sain-van der Velden M, Kranenburg L, et al.
Mol Genet Metab
. 2010 Jul;
101(2-3):289-91.
PMID: 20655779
This case-series describes fourteen horses suspected of equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) also known as atypical myopathy of which seven cases were confirmed biochemically with all horses having...
15.
Wanders R, Ferdinandusse S, Brites P, Kemp S
Biochim Biophys Acta
. 2010 Jan;
1801(3):272-80.
PMID: 20064629
Peroxisomes play an essential role in cellular lipid metabolism as exemplified by the existence of a number of genetic diseases in humans caused by the impaired function of one of...
16.
van den Broek N, Ciapaite J, De Feyter H, Houten S, Wanders R, Jeneson J, et al.
FASEB J
. 2009 Dec;
24(5):1354-64.
PMID: 20040520
Mitochondria are thought to play a crucial role in the etiology of muscle insulin resistance (IR). The aim of this study was to gain more insight into the timing and...
17.
Dursun A, Gucer S, Ebberink M, Yigit S, Wanders R, Waterham H
J Inherit Metab Dis
. 2009 Dec;
32 Suppl 1:S345-8.
PMID: 20033294
The peroxisomal biogenesis disorders (PBDs) comprise the Zellweger spectrum disorders (i.e., Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease) and rhizomelic chondrodysplasia punctata. Peroxisomal biogenesis disorders can be caused by...
18.
Houten S, Chegary M, Te Brinke H, Wijnen W, Glatz J, Luiken J, et al.
Cell Mol Life Sci
. 2009 Feb;
66(7):1283-94.
PMID: 19224132
Organs are flexible as to which substrates they will use to maintain energy homeostasis. Under well-fed conditions, glucose is a preferred substrate for oxidation. During fasting, fatty acid oxidation will...
19.
van Maldegem B, Duran M, Wanders R, Niezen-Koning K, Hogeveen M, IJlst L, et al.
Ned Tijdschr Geneeskd
. 2008 Aug;
152(30):1678-85.
PMID: 18714522
Objective: To describe the clinical, genetic, and biochemical characteristics of short-chain acyl-CoA dehydrogenase deficiency (SCADD), a clinically heterogeneous metabolic disorder for which neonates are screened for in parts of the...
20.
Willemsen A, Jansen G, Komen J, van Hooff S, Waterham H, Brites P, et al.
Bioinformatics
. 2008 Aug;
24(16):i21-7.
PMID: 18689827
Motivation: One important area of clinical genomics research involves the elucidation of molecular mechanisms underlying (complex) disorders which eventually may lead to new diagnostic or drug targets. To further advance...