K. Niezen-Koning

The frequency of lysosomal storage diseases in The Netherlands

R. A. Wevers, R. Wevers, B. Poorthuis, 1999, Human Genetics.

Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.

G. Matthijs, R. Wevers, S. Wortmann, 2011, Biochimica et biophysica acta.

A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.

K. Skullerud, M. Veenhuis, A. Huckriede, 1993, Biochemical and biophysical research communications.

Glycogen Storage Disease Type II: Birth Prevalence Agrees with Predicted Genotype Frequency

L. Sandkuijl, R. Wevers, A. Reuser, 2000, Public Health Genomics.

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

R. Wanders, T. Fukao, N. Kondo, 2010, Molecular genetics and metabolism.

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study

R. Wevers, B. Poorthuis, C. Weykamp, 2005, Journal of Inherited Metabolic Disease.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

J. M. Aerts, R. Wevers, C. Hollak, 2012, Molecular genetics and metabolism.