Francjan J van Spronsen

Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay.

Paul E Sijens, L. Meiners, P. Sijens, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Nenad Blau, Roberto Cerone, N. Blau, 2013, Pediatrics.