The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

by Bosch Annet M, Stroek Kevin, Abeling Nico G, Waterham Hans R, IJlst Lodewijk, Wanders Ronald JA
Published 2012-10-01

Clinical pathways for inborn errors of metabolism: warranted and feasible

by Demirdas Serwet, van Kessel Imke N, Korndewal Marjolein J, Hollak Carla EM, Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J, Bosch Annet M
Published 2013-02-01

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

by Jonkers Cora F, ter Horst Nienke M, van der Herberg-van de Wetering N Ada P, Boelen Carolien CA, Hollak Carla EM, ten Hoedt Amber E, Wijburg Frits A, Bosch Annet M
Published 2011-06-01

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

by 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, Elvers Bert, Niezen-Koning Klary E, Wanders Ronald J A, Waterham Hans R, Reijngoud Dirk-Jan, Derks Terry G J
Published 2012-05-01