Article
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal of medical genetics - 1 Jun 2016
Montaño Adriana M, Lock-Hock Ngu, Steiner Robert D, Graham Brett H, Szlago Marina, Greenstein Robert, Pineda Mercedes, Gonzalez-Meneses Antonio, Çoker Mahmut, Bartholomew Dennis, Sands Mark S, Wang Raymond, Giugliani Roberto, Macaya Alfons, Pastores Gregory, Ketko Anastasia K, Ezgü Fatih, Tanaka Akemi, Arash Laila, Beck Michael, Falk Rena E, Bhattacharya Kaustuv, Franco José, White Klane K, Mitchell Grant A, Cimbalistiene Loreta, Holtz Max, Sly William S
Abstract excerpt
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....
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