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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...

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Principais autores: Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2017-06-01
סדרה:Orphanet Journal of Rare Diseases
נושאים:
Mucopolysaccharidosis I
Hurler
Allogeneic hematopoietic stem cell transplantation
Enzyme replacement therapy
Metabolic disorder
Lysosomal storage
גישה מקוונת:http://link.springer.com/article/10.1186/s13023-017-0662-9
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