Ron A. Wevers

Research interests

Publications

• Next‐generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

  Journal of Inherited Metabolic Disease · 2018 · 10.1007/s10545-017-0131-6

• SUCNR1-mediated chemotaxis of macrophages aggravates obesity-induced inflammation and diabetes

  Diabetologia · 2017 · 10.1007/s00125-017-4261-z

• Exome Sequencing and the Management of Neurometabolic Disorders

  New England Journal of Medicine · 2016 · https://doi.org/10.1056/nejmoa1515792

• CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2014.12.013

• Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

  New England Journal of Medicine · 2014 · https://doi.org/10.1056/nejmoa1206605

• Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

  Nature Genetics · 2012 · 10.1038/ng.2325

• Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

  The American Journal of Human Genetics · 2012 · 10.1016/j.ajhg.2012.01.018

• Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

  Brain · 2010 · 10.1093/brain/awp336

• SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

  Cell · 2010 · https://doi.org/10.1016/j.cell.2010.06.001

• Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

  Brain · 2010 · 10.1093/brain/awq087

• Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations

  Annals of Neurology · 2010 · 10.1002/ana.22092

• Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

  The American Journal of Human Genetics · 2009 · 10.1016/j.ajhg.2009.08.005

• Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

  The American Journal of Human Genetics · 2009 · 10.1016/j.ajhg.2009.06.006

• The role of interlamellar chain entanglement in deformation-induced structure changes during uniaxial stretching of isotactic polypropylene

  Polymer · 2007 · 10.1016/j.polymer.2007.08.065

• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2

  Nature Genetics · 2007 · 10.1038/ng.2007.45

• SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

  Brain · 2007 · 10.1093/brain/awl389

• Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

  Clinical Chemistry · 2006 · 10.1373/clinchem.2005.063040

• Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle

  Clinical Science · 2001 · 10.1042/cs20000247

• Performance of near-infrared spectroscopy in measuring local O2 consumption and blood flow in skeletal muscle

  Journal of Applied Physiology · 2001 · 10.1152/jappl.2001.90.2.511

• Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle

  Clinical Science · 2001 · 10.1042/cs1010021

• Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis

  Brain · 2000 · 10.1093/brain/123.5.908

• The frequency of lysosomal storage diseases in The Netherlands

  Human Genetics · 1999 · 10.1007/s004399900075

• Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

  The American Journal of Human Genetics · 1998 · 10.1086/301982

• Elevated plasma chitotriosidase activity in various lysosomal storage disorders

  Journal of Inherited Metabolic Disease · 1995 · 10.1007/bf02436762

• Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism

  Biochimica et Biophysica Acta (BBA) - Bioenergetics · 1992 · 10.1016/0005-2728(92)90096-k

• Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.

  Clinical Chemistry · 1989 · 10.1093/clinchem/35.7.1472

Current projects

No projects listed.