Tom J. de Koning

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 520 citations

Cause Hyperimmunoglobulinaemia D, Periodic Fever Syndrome, Autoimmune Disease +11

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

Mieke Aldenhoven, Robert Wynn, Paul J. Orchard et al. · Blood · 2015 · 309 citations · Full text

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Marjan E. Steenweg, Adeline Vanderver, Susan Blasér et al. · Brain · 2010 · 283 citations · Full text

Hypomyelination Disorders, Ophthalmology, Neurological Disorder +13

Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and<i>MAGED2</i>Mutations

Kamel Laghmani, Bodo B. Beck, Sung-Sen Yang et al. · New England Journal of Medicine · 2016 · 181 citations · Full text

A sensitive and simple ultra-high-performance-liquid chromatography–tandem mass spectrometry based method for the quantification of d-amino acids in body fluids

Wouter F. Visser, Nanda M. Verhoeven‐Duif, Roel A. Ophoff et al. · Journal of Chromatography A · 2011 · 165 citations

Biochemistry, Body Fluids, Medicine +12