Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
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
Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disease occurs almost exclusively in males. However, in the literature, 12 cases of the disease in females are known due to structural anomalie...
Alternative Titles
Full title
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1a8b6ef112084eeaba81b414a6ac1563
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1a8b6ef112084eeaba81b414a6ac1563
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-019-0807-x
