SanfilippoSyndrome

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