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

Yazar: 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.
Baskı/Yayın Bilgisi 1998

Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

Yazar: 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.
Baskı/Yayın Bilgisi 2014

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

Yazar: 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
Baskı/Yayın Bilgisi 2012