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

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

<p>Abstract</p> <p>Background</p> <p>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,...

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Bibliographic Details
Main Authors: de Ru Minke H, Teunissen Quirine GA, van der Lee Johanna H, Beck Michael, Bodamer Olaf A, Clarke Lorne A, Hollak Carla E, Lin Shuan-Pei, Rojas Maria-Verónica, Pastores Gregory M, Raiman Julian A, Scarpa Maurizio, Treacy Eileen P, Tylki-Szymanska Anna, Wraith J Edmond, Zeman Jiri, Wijburg Frits A
Format: Article
Language:English
Published: BMC 2012-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mucopolysaccharidosis type I
Iduronidase
Classification
Consensus
Phenotype
Hematopoietic stem cell transplantation
Online Access:http://www.ojrd.com/content/7/1/22

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