Comments on ‘Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures’ in Molecular Genetics and Metabolism' 2014 Mar;111(3):404-7 b...

Por van der Stoep, Nienke, Onkenhout, Willem, Prins, Sandra, Struys, Eduard, Jakobs, Cornelis, Peeters-Scholte, Cacha
Publicado no Mol Genet Metab Rep (2014)

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

Por Wiltink, Rachel C, Kruijshaar, Michelle E, van Minkelen, Rick, Onkenhout, Willem, Verheijen, Frans W, Kemper, Evelien A, van Spronsen, Francjan J, van der Ploeg, Ans T, Niezen-Koning, Klary E, Saris, Jasper J, Williams, Monique
Publicado no Eur J Hum Genet (2016)