Browsing by Author "Babameto-Laku, Anila"
Now showing items 1-1 of 1
-
A novel pathological arsb mutation (c.870G>A; p.Trp290stop) in mucopolysaccharidosis type VI patients
Hancer, Veysel Sabri; Buyukdogan, Murat; Babameto-Laku, Anila (Karger, 2019)Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder, characterized by the deficiency of the arylsulfatase B enzyme. The clinical phenotype and severity of the illness ...