Johannis B.C. de Klerk

Peroxisomal <scp>d</scp> -hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

E.G. van Grunsven, E. van Berkel, Lodewijk IJlst et al. · Proceedings of the National Academy of Sciences · 1998 · 149 citations · Full text

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

Bwee Tien Poll‐The, Jeannette Gootjes, Marinus Durán et al. · American Journal of Medical Genetics Part A · 2004 · 91 citations

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

Silvia Ferrè, Jeroen H. F. de Baaij, Patrick Ferreira et al. · Journal of the American Society of Nephrology · 2013 · 89 citations · Full text

Electrolyte Disorder, Genetics, Pcbd1 Gene +17

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

Timo Imbach, Stephanie Grünewald, Barbara Schenk et al. · Human Genetics · 2000 · 66 citations

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

Glutaric aciduria type I: ultrasonographic demonstration of early signs

Rosemarie Forstner, Georg F. Hoffmann, Ingemar Gassner et al. · Pediatric Radiology · 1999 · 57 citations

Urogenital Radiology, Glutaric Aciduria Type, Medicine +5