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Article

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

23 Apr 2012

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I-S) phenotype. However, there are no clear criteria for delineating the different phenotypes. Because decisions about optimal treatment (enzyme replacement therapy or hematopoietic stem cell...

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PMID: 22524701
DOI: 10.1186/1750-1172-7-22

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