Article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Orphanet journal of rare diseases - 9 Jul 2013
Kingma Sandra D K, Langereis Eveline J, de Klerk Clasine M, Zoetekouw Lida, Wagemans Tom, IJlst Lodewijk, Wanders Ronald J A, Wijburg Frits A, van Vlies Naomi
Abstract excerpt
INTRODUCTION: Mucopolysaccharidosis type I (MPS I) is a progressive multisystem lysosomal storage disease caused by deficiency of the enzyme α-L-iduronidase (IDUA). Patients present with a continuous spectrum of disease severity, and the most severely affected patients (Hurler phenotype; MPS I-H) develop progressive cognitive impairment. The treatment of choice for MPS I-H patients is haematopoietic stem cell...
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