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

Autor 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.
Vydáno 1998

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

Autor 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.
Vydáno 2014

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

Autor 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
Vydáno 2012