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., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.53, sa.6, ss.403-418, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Konu: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1136/jmedgenet-2015-103322
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.403-418

Özet

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.