1
Jager, Emmalie A., Kuijpers, Myrthe M., Bosch, Annet M., Mulder, Margot F., Gozalbo, Estela R., Visser, Gepke, de Vries, Maaike, Williams, Monique, Waterham, Hans R., van Spronsen, Francjan J., Schielen, Peter C. J. I., Derks, Terry G. J.
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Gozalbo , E R , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019
Veröffentlicht in: Jager , E A , Kuijpers , M M , Bosch , A M , Mulder , M F , Gozalbo , E R , Visser , G , de Vries , M , Williams , M , Waterham , H R , van Spronsen , F J , Schielen , P C J I & Derks , T G J 2019 , ' A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 5 , pp. 890-897 . https://doi.org/10.1002/jimd.12102;
2019
2
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.
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012
Veröffentlicht in: Touw , C M L , Smit , G P A , de Vries , M , de Klerk , J B C , Bosch , A M , Visser , G , Mulder , M F , Rubio-Gozalbo , M E , Elvers , B , Niezen-Koning , K E , Wanders , R J A , Waterham , H R , Reijngoud , D-J & Derks , T G J 2012 , ' Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency : data from a cohort study ' , Orphanet journal of rare diseases , vol. 7 , 30 . https://doi.org/10.1186/1750-1172-7-30;
2012