Clinical course of sly syndrome (mucopolysaccharidosis type VII)


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Montano A. M. , Lock-Hock N., Steiner R. D. , Graham B. H. , Szlago M., Greenstein R., ...More

JOURNAL OF MEDICAL GENETICS, vol.53, no.6, pp.403-418, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 6
  • Publication Date: 2016
  • Doi Number: 10.1136/jmedgenet-2015-103322
  • Title of Journal : JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.403-418

Abstract

Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of beta-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 and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data.