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

по 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.
Опубликовано 1998

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

по 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.
Опубликовано 2014

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

по 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
Опубликовано 2012