English
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
Source: American Journal of Medical Genetics, Part A
Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III)
Source: Neuroradiology
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene
Source: Metabolic Brain Disease
Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study
Source: Journal of Inherited Metabolic Disease
NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION
Source: Retinal Cases and Brief Reports