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

door van Grunsven, Elisabeth G., van Berkel, Emanuel, Ijlst, Lodewijk, Vreken, Peter, de Klerk, Johannis B. C., Adamski, Jerzy, Lemonde, Hugh, Clayton, Peter T., Cuebas, Dean A., Wanders, Ronald J. A.
Gepubliceerd in 1998

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

door Ferrè, Silvia, de Baaij, Jeroen H.F., Ferreira, Patrick, Germann, Roger, de Klerk, Johannis B.C., Lavrijsen, Marla, van Zeeland, Femke, Venselaar, Hanka, Kluijtmans, Leo A.J., Hoenderop, Joost G.J., Bindels, René J.M.
Gepubliceerd in 2014

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

door Touw, Catharina M L, Smit, G Peter A, de Vries, Maaike, de Klerk, Johannis B C, Bosch, Annet M, Visser, Gepke, Mulder, Margot F, Rubio-Gozalbo, M Estela, Elvers, Bert, Niezen-Koning, Klary E, Wanders, Ronald J A, Waterham, Hans R, Reijngoud, Dirk-Jan, Derks, Terry G J
Gepubliceerd in 2012