Open issues in Mucopolysaccharidosis type I-Hurler

Abstract Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological d...

詳細記述

書誌詳細

出版年:	Orphanet Journal of Rare Diseases
主要な著者:	Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
フォーマット:	論文
言語:	英語
出版事項:	BMC 2017-06-01
主題:	Mucopolysaccharidosis I Hurler Allogeneic hematopoietic stem cell transplantation Enzyme replacement therapy Metabolic disorder Lysosomal storage
オンライン･アクセス:	http://link.springer.com/article/10.1186/s13023-017-0662-9