Open issues in Mucopolysaccharidosis type I-Hurler
Open issues in Mucopolysaccharidosis type I-Hurler
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 disease, upper airway obstruction, skeletal deformity and ca...
Alternative Titles
Full title
Open issues in Mucopolysaccharidosis type I-Hurler
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_cfa741142ece4f568cd344f804fa569f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_cfa741142ece4f568cd344f804fa569f
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-017-0662-9
