J. B. D. Klerk

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

E. Sidransky, R. Willemsen, D. Stone, 1999, European Journal of Human Genetics.

Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).

J. D. de Klerk, E. van Beurden, R. Berger, 1997, American journal of human genetics.

IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria

E. Holme, E. Schaftingen, J. Smeitink, 2010, Science.

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

M. Durán, H. Scholte, J. D. de Klerk, 2000, Pediatrics.

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

P. Vreken, R. Wanders, J. Adamski, 1998, Proceedings of the National Academy of Sciences of the United States of America.