Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

by Colland Vivian, Grootenhuis Martha, Marchal Jan, Valstar Marlies J, Wijburg Frits A
Published 2011-06-01

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

by Wijburg Frits A, Wieling Wouter, van Schaik Ivo N, Biegstraaten Marieke, Hollak Carla EM
Published 2010-06-01

Disease and patient characteristics in NP-C patients: findings from an international disease registry

by Patterson Marc C, Mengel Eugen, Wijburg Frits A, Muller Audrey, Schwierin Barbara, Drevon Harir, Vanier Marie T, Pineda Mercé
Published 2013-01-01

"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

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

by Sykora Karl-Walter, Rovelli Attilio, Parini Rossella, O'Meara Anne, Offringa Martin, Mengel Eugen, Mahlaoui Nizar, van der Lee Johanna H, Jones Simon A, Das Anibh M, Boelens Jaap J, de Ru Minke H, Valayannopoulos Vassili, Vellodi Ashok, Wynn Robert F, Wijburg Frits A
Published 2011-08-01

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

by de Ru Minke H, Teunissen Quirine GA, van der Lee Johanna H, Beck Michael, Bodamer Olaf A, Clarke Lorne A, Hollak Carla E, Lin Shuan-Pei, Rojas Maria-Verónica, Pastores Gregory M, Raiman Julian A, Scarpa Maurizio, Treacy Eileen P, Tylki-Szymanska Anna, Wraith J Edmond, Zeman Jiri, Wijburg Frits A
Published 2012-04-01