Ron Wevers
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Explore the profile of Ron Wevers including associated specialties, affiliations and a list of published articles.
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20
Citations
508
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Recent Articles
1.
Peeters T, Lenting K, Breukels V, van Lith S, van den Heuvel C, Molenaar R, et al.
Cancer Metab
. 2019 May;
7:4.
PMID: 31139406
Background: Mutations in isocitrate dehydrogenase 1 () occur in various types of cancer and induce metabolic alterations resulting from the neomorphic activity that causes production of -2-hydroxyglutarate (2-HG) at the...
2.
Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki E, Papakitsou I, Kounali V, et al.
Am J Kidney Dis
. 2019 May;
74(4):510-522.
PMID: 31103331
Rationale & Objective: Lecithin-cholesterol acyltransferase (LCAT) catalyzes the maturation of high-density lipoprotein. Homozygosity for loss-of-function mutations causes familial LCAT deficiency (FLD), characterized by corneal opacities, anemia, and renal involvement. This...
3.
Alsady M, de Groot T, Kortenoeven M, Carmone C, Neijman K, Bekkenkamp-Grovenstein M, et al.
Am J Physiol Renal Physiol
. 2017 Oct;
314(2):F230-F239.
PMID: 29070571
Lithium, given to bipolar disorder patients, causes nephrogenic diabetes insipidus (Li-NDI), a urinary-concentrating defect. Li-NDI occurs due to downregulation of principal cell AQP2 expression, which coincides with principal cell proliferation....
4.
Stockler S, Corvera S, Lambright D, Fogarty K, Nosova E, Leonard D, et al.
Orphanet J Rare Dis
. 2014 Sep;
9:141.
PMID: 25233840
Background: We report a 6.5 year-old female with a homozygous missense mutation in ZFYVE20, encoding Rabenosyn-5 (Rbsn-5), a highly conserved multi-domain protein implicated in receptor-mediated endocytosis. The clinical presentation includes...
5.
van de Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E
J Inherit Metab Dis
. 2013 Nov;
37(3):383-90.
PMID: 24173411
Although hyperprolinemia type-II has a discriminative metabolic phenotype and is frequently associated with neurological system involvement, the casual relation between the metabolic abnormalities and the clinical features, except for those...
6.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, et al.
Eur J Hum Genet
. 2013 Aug;
22(7):888-95.
PMID: 23963297
Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive...
7.
van den Broek L, Backx A, Coolen H, Wijburg F, Wevers R, Morava E, et al.
Pediatrics
. 2011 Apr;
127(5):e1343-6.
PMID: 21464194
A previously healthy 10-month-old boy was referred to our hospital because of coarse facial features that were suggestive of lysosomal storage disease. Apart from noisy respiration, there was no medical...
8.
Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, et al.
Am J Hum Genet
. 2009 Sep;
85(3):354-63.
PMID: 19732866
Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all...
9.
Montoya Alvarez T, Diaz Guardiola P, Olivar Roldan J, Elviro R, Wevers R, Guijarro G
Endocrinol Nutr
. 2009 Aug;
56(6):337-40.
PMID: 19695515
Primary trimethylaminuria, or fish odor syndrome, is a congenital metabolic disorder characterized by a failure in the hepatic trimethylamine (TMA) oxidation route to trimethylamine N-oxide (TMANO). TMA is mostly derived...
10.
Montoya Alvarez T, Diaz Guardiola P, Elviro R, Wevers R
Med Clin (Barc)
. 2009 May;
134(3):134-5.
PMID: 19442993
No abstract available.