J. D. de Klerk

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

F. Verheijen, G. Ruijter, A. M. Boer, 2011, Molecular genetics and metabolism.

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β-oxidation defects

B. Poorthuis, H. Scholte, J. D. de Klerk, 2001, Journal of Inherited Metabolic Disease.

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

W. Hop, W. Arts, J. Smeitink, 2004, Pediatrics.

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk.

J. Smeitink, A. Reuser, A. T. van der Ploeg, 2001, Journal of inherited metabolic disease.

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa‐nonresponsive dystonia

M. Naumann, R. Wevers, G. Hoffmann, 2003, Annals of neurology.

Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk

J. Smeitink, A. Reuser, A. T. van der Ploeg, 2001, Journal of Inherited Metabolic Disease.

Pyruvate dehydrogenase complex deficiency and absence of subunit X

S. Seneca, L. de Meirleir, W. Lissens, 1998, Journal of Inherited Metabolic Disease.

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

D. Knol, F. Aarsen, P. Pouwels, 2011, Journal of Inherited Metabolic Disease.

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.