The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

This publication has 24 references indexed in Scilit:

• Clinical presentation and follow‐up of patients with the attenuated phenotype of mucopolysaccharidosis type I
  Acta Paediatrica, 2005
• The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I
  Expert Opinion on Pharmacotherapy, 2005
• Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
  Seminars in Hematology, 2004
• The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations
  The Journal of Pediatrics, 2004
• Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase)
  The Journal of Pediatrics, 2004
• Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
  Published by Elsevier ,2004
• Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources
  Bone Marrow Transplantation, 2003
• Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
  Human Genetics, 2001
• Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres
  Archives of Disease in Childhood, 1997
• Problems in the Use of Large Data Sets to Assess Effectiveness
  International Journal of Technology Assessment in Health Care, 1990