Mucopolysaccharidosis I: management and treatment guidelines
J Muenzer, JE Wraith, LA Clarke… - …, 2009 - publications.aap.org
OBJECTIVE. Disease management for mucopolysaccharidosis type I has been inconsistent
because of disease rarity (∼ 1 case per 100000 live births), phenotypic heterogeneity, and
limited therapeutic options. The availability of hematopoietic stem cell transplantation and
the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I
necessitate the establishment of system-specific management guidelines for this condition.
METHODS. Twelve international experts on mucopolysaccharidosis I met in January 2003 to …
because of disease rarity (∼ 1 case per 100000 live births), phenotypic heterogeneity, and
limited therapeutic options. The availability of hematopoietic stem cell transplantation and
the recent introduction of enzyme replacement therapy for mucopolysaccharidosis I
necessitate the establishment of system-specific management guidelines for this condition.
METHODS. Twelve international experts on mucopolysaccharidosis I met in January 2003 to …
