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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4893087

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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Publication information

Publisher

England: BMJ Publishing Group LTD

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Scope and Contents

Contents

BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients’ phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency...

Alternative Titles

Full title

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

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Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4893087

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4893087

Other Identifiers

ISSN

0022-2593

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2015-103322

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