Klary E. Niezen‐Koning

The frequency of lysosomal storage diseases in The Netherlands

Ben J. H. M. Poorthuis, Ron A. Wevers, Wim J. Kleijer et al. · Human Genetics · 1999 · 725 citations

Life Sciences, Genetics, Pathology +9

Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Bianca T. van Maldegem, Marinus Durán, Ronald J. A. Wanders et al. · JAMA · 2006 · 136 citations

Life Sciences, Genetics, Pediatrics +17

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

J L Van Hove, Stephanie Grünewald, Jaak Jaeken et al. · The Lancet · 2003 · 108 citations

Life Sciences, Biochemistry, Endocrinology +12

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

Carla E. M. Hollak, Eleonore S. V. de Sonnaville, David Cassiman et al. · Molecular Genetics and Metabolism · 2012 · 102 citations

Life Sciences, Molecular Medicine, Pathobiology +10

A Fatal, Systemic Mitochondrial Disease with Decreased Mitochondrial Enzyme Activities, Abnormal Ultrastructure of the Mitochondria and Deficiency of Heat Shock Protein 60

Etienne Agsteribbe, Anke Huckriede, Marten Veenhuis et al. · Biochemical and Biophysical Research Communications · 1993 · 83 citations · Full text

Life Sciences, Pathobiology, Pathology +13