Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the
IDUA
gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the first decade due to cardio-pulmonary complicat...
Alternative Titles
Full title
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5133554
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5133554
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep38305
