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

Por 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.
Publicado em 1998

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2012