Increased levels of certain gangliosides, or sugar-fat molecules, in the cerebrospinal fluid of people with Sanfilippo syndrome may be…
Articles by Ana Pena, PhD
Growth charts of Sanfilippo patients, created in a German study, can help doctors predict the developmental progress of children affected…
A new mutation in the SGSH gene associated with Sanfilippo syndrome type A,…
Caring for a child with mucopolysaccharoidosis (MPS), including Sanfilippo syndrome…
Adults with mucopolysaccharidosis (MPS), including MPS III, also known as …
New formulations based on sugar molecules may improve the properties of candidate compounds for substrate reduction therapy to…
Researchers have discovered a new mutation in the NAGLU gene that is associated with Sanfilippo syndrome type B. They…
The time it takes to diagnose mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome, haven’t improved in nearly…
Substrate reduction therapy (SRT) shows potential in preclinical models and in clinical studies of patients with …
Researchers have diagnosed an infant with two rare conditions, Sanfilippo syndrome type B and skeletal dysplasia, using a genetic technique…