Back to search results

Person

Prof.dr. R.A. Wevers

Pagina-navigatie:

Update Persondata

Expertise	Congenital metabolic diseases; Muscular diseases; Proteomics; Metabonomics; NMR spectroscopy; Metabolism; Neurotransmitters; Congenital defects in (protein) glycosylation; Metabolomics
Expertise (NL)	Erfelijke stofwisselingsziekten; Spierziekten; Proteomics; Metabonomics; NMR-spectroscopie; Metabolisme; Neurotransmitters; Congenitale defecten in (eiwit) glycosylering; Metabolomics
Digital Author ID	info:eu-repo/dai/nl/068311508

Active as

Professor
Organisation	Department Laboratory Medicine (RU)
Chair (EN)	Clinical chemistry of inborn errors of metabolism
Chair (NL)	Klinische chemie van erfelijke metabole ziekten
Phone	+31-24-3614567
Email	r. wevers -at- labgk. umcn. nl
URL	http://organisatiegids.ru.nl/tabOnderzoek.aspx?RBSID=101064

Publications

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.
Tratamiento dietético de la trimetilaminuria
[(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case.
What have we here? A man or a fish?
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.

All publications..

Current research

(the most recent research is at the top)
Supervisor	Cutis laxa: the genetic and cellular basis of connective tissue aging

Completed research projects

(the most recent research is at the top)
Supervisor	NMR Spectroscopy of Body Fluids: a metabolomics approach to inborn errors of metabolism
Project leader	Neurometabolic diseases based on defects in protein glycosylation

Classification

D21300	Biochemistry
D23231	Neurology
D23362	Pediatrics

Go to page top
Go back to contents
Go back to site navigation