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The frequency of lysosomal storage diseases in The Netherlands
- B. Poorthuis, R. Wevers, O. V. van Diggelen
- MedicineHuman Genetics
- 1 July 1999
TLDR
Performance of near-infrared spectroscopy in measuring local O(2) consumption and blood flow in skeletal muscle.
- M. V. van Beekvelt, W. Colier, R. Wevers, B. V. van Engelen
- MedicineJournal of applied physiology
- 1 February 2001
TLDR
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
- K. Tuschl, P. Clayton, P. Mills
- Biology, MedicineAmerican journal of human genetics
- 9 March 2012
Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism.
- M. Wyss, J. Smeitink, R. Wevers, T. Wallimann
- BiologyBiochimica et biophysica acta
- 25 September 1992
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
- W. Leen, J. Klepper, M. Willemsen
- Medicine, BiologyBrain : a journal of neurology
- 1 March 2010
TLDR
Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle.
- M. V. van Beekvelt, M. Borghuis, B. V. van Engelen, R. Wevers, W. Colier
- BiologyClinical science
- 2001
TLDR
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.
- R. Steinfeld, M. Grapp, J. Gärtner
- Biology, MedicineAmerican journal of human genetics
- 11 September 2009
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
- S. Wortmann, F. Vaz, A. Brouwer
- BiologyNature Genetics
- 1 July 2012
Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and…
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
- S. Wopereis, S. Grünewald, R. Wevers
- Medicine, BiologyClinical chemistry
- 1 November 2003
TLDR
In vivo quantitative near‐infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise
- M. V. van Beekvelt, B. V. van Engelen, R. Wevers, W. Colier
- BiologyClinical physiology and functional imaging
- 1 May 2002
TLDR
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