Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly
BACKGROUND: Mucopolysaccharidosis 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 and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII...
June 2016: Journal of Medical Genetics