MPS VII – Extending the classical phenotype

MPS VII – Extending the classical phenotype

Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase (GUSB). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate (CS), dermatan sulfate (DS) and heparan sulfate (HS) results in the accumulation...

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Bibliographic Details
Main Authors: A. Oldham, N.J. Oxborrow, P. Woolfson, P. Jenkins, C. Gadepalli, J. Ashworth, A. Saxena, M. Rothera, C.J. Hendriksz, G. Tol, A. Jovanovic
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis VII
Sly syndrome
Case report
GUSB
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000829

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http://www.sciencedirect.com/science/article/pii/S2214426922000829

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