R J A Wanders
Overview
Explore the profile of R J A Wanders including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
88
Citations
1679
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Hieltjes I, van der Lee J, Groenendijk M, van Haaften G, van Hasselt P, Lunsing R, et al.
JIMD Rep
. 2024 Dec;
66(1):e12455.
PMID: 39723120
Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert...
2.
Verly I, Leen R, Meinsma J, Hooijer G, Savci-Heijink C, van Nes J, et al.
Eur J Cancer
. 2019 Feb;
111:21-29.
PMID: 30798085
Introduction: Analysis of urinary catecholamine metabolites is one of the primary modalities to diagnose patients with neuroblastoma. Although catecholamine excretion patterns have been recognised in the past, their biological rationale...
3.
Moedas M, Adam A, Farelo M, IJlst L, Chamuleau R, Hoekstra R, et al.
Anal Biochem
. 2017 Aug;
535:47-55.
PMID: 28757091
Current methodologies for the assessment of urea cycle (UC) enzymatic activity are insufficient to accurately evaluate this pathway in biological specimens where lower UC is expected. Liver cell lines, including...
4.
Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders R, et al.
JIMD Rep
. 2016 Aug;
34:71-75.
PMID: 27557811
Background: Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in...
5.
Dercksen M, Kulik W, Mienie L, Reinecke C, Wanders R, Duran M
Eur J Clin Nutr
. 2016 Jun;
70(10):1123-1126.
PMID: 27329611
Background/objectives: Nutritional deficiencies are frequently observed when treating patients with inborn errors of metabolism due to an unbalanced diet. Thus far, patients with isovaleric acidemia (IVA) who adhere to a...
6.
Korver-Keularts I, de Visser M, Bakker H, Wanders R, Vansenne F, Scholte H, et al.
JIMD Rep
. 2015 Mar;
22:39-45.
PMID: 25732997
In a 28-year-old male with a mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or ophthalmoplegia, we identified two novel mutations in the...
7.
Zutt R, van der Kooi A, Linthorst G, Wanders R, de Visser M
Neuromuscul Disord
. 2014 Jun;
24(8):651-9.
PMID: 24946698
Rhabdomyolysis is a serious and potentially life threatening condition. Although consensus criteria for rhabdomyolysis is lacking, a reasonable definition is elevation of serum creatine kinase activity of at least 10...
8.
Dercksen M, IJlst L, Duran M, Mienie L, van Cruchten A, van der Westhuizen F, et al.
Biochim Biophys Acta
. 2013 May;
1842(12 Pt A):2510-6.
PMID: 23643712
Hyperammonemia is a frequent finding in various organic acidemias. One possible mechanism involves the inhibition of the enzyme N-acetylglutamate synthase (NAGS), by short-chain acyl-CoAs which accumulate due to defective catabolism...
9.
El Hajj H, Vluggens A, Andreoletti P, Ragot K, Mandard S, Kersten S, et al.
Endocrinology
. 2012 Apr;
153(6):2568-75.
PMID: 22508517
Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1 (ACOX1) deficiency, which leads to the accumulation of very-long-chain fatty acids (VLCFA) and...
10.
van der Knaap M, Wassmer E, Wolf N, Ferreira P, Topcu M, Wanders R, et al.
Neurology
. 2012 Mar;
78(17):1304-8.
PMID: 22459681
Objective: Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile onset peroxisomal defect, but no convincing...