Stem Cell Transplant Helped Girl with Sanfilippo, Case Study Shows

An 11-year-old girl with Sanfilippo syndrome type A who received a stem cell transplant as an infant maintained her cognitive skills and motor function, and improved her quality of life compared to six children who did not have the transplant, a case study reports. In the…

MRI Analysis Identifies Jaw Bone Defects Specific to MPS Types, Including Sanfilippo

A retrospective analysis on magnetic resonance images from patients with mucopolysaccharidoses (MPS), including Sanfilippo syndrome, revealed jaw bone defects specific to certain disease subtypes. Researchers also found that some of these craniofacial abnormalities, which are those relating to the bones of the skull and face, were not corrected even…