Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
Minke H. de Ru(Amsterdam UMC Location University of Amsterdam), Frits A. Wijburg(Emma Kinderziekenhuis), Anibh M. Das(Medizinische Hochschule Hannover), Attilio Rovelli(Azienda Ospedaliera San Gerardo), Karl‐Walter Sykora(Medizinische Hochschule Hannover), Ashok Vellodi(Great Ormond Street Hospital), Vassili Valayannopoulos(Regeneron (United States)), Simon Jones(Manchester Academic Health Science Centre), Nizar Mahlaoui(Hôpital Necker-Enfants Malades), Eugen Mengel(University of Hohenheim), Robert Wynn(Royal Manchester Children's Hospital), Rossella Parini(Azienda Ospedaliera San Gerardo), Anne O’Meara(Our Lady's Hospital), Jaap Jan Boelens(Wilhelmina Children's Hospital), Johanna H. van der Lee(Amsterdam UMC Location University of Amsterdam), Martin Offringa(Amsterdam UMC Location University of Amsterdam)
Cited by 233
Related Papers
Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy
|Science|2009|1.5k
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
|Proceedings of the National Academy of Sciences|2008|725
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
|Molecular Genetics and Metabolism|2012|478
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study
|Journal of the American Society of Nephrology|2016|421