Ron A Wevers

发表

Table 3. [New Classification for Inborn Errors...].

Saskia B Wortmann, Arjan P.M. de Brouwer, Ron A Wevers, 2014 .

Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principle.

Ron A Wevers, Hans J C T Wessels, Lambert P van den Heuvel, 2005, Journal of proteome research.

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

Jasper Engel, Christian Gilissen, Saskia B Wortmann, 2018, Journal of Inherited Metabolic Disease.

Exome Sequencing and the Management of Neurometabolic Disorders.

Andrea Superti-Furga, Rupasri Mandal, Wyeth W Wasserman, 2016, The New England journal of medicine.

Autosomal recessive cutis laxa syndrome revisited

Ron A Wevers, R. Wevers, E. Morava, 2009, European Journal of Human Genetics.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra

Tomáš Adam, Ron A Wevers, Jan Václavík, 2018, Journal of Inherited Metabolic Disease.

Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.

Ron A Wevers, Eva Morava, Suzan Wopereis, 2006, Clinical chemistry.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

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

Simona Lucioli, Ron A Wevers, Eva Morava, 2007, Brain : a journal of neurology.

In vivo quantitative near‐infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise

Baziel G M van Engelen, Ron A Wevers, W. Colier, 2002, Clinical physiology and functional imaging.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy.

Ron A Wevers, Marlies Oostendorp, Udo F H Engelke, 2006, Clinical chemistry.

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy

Jos Oomens, David Wishart, Ron A Wevers, 2018, Journal of Inherited Metabolic Disease.

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.