Article
High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study.
Molecular genetics and metabolism - 1 May 2013
de Ruijter Jessica, Maas Mario, Janssen Anneloes, Wijburg Frits A
Abstract excerpt
BACKGROUND: Sanfilippo disease, or Mucopolysaccharidosis type III (MPS III), is a lysosomal storage disorder and a member of the mucopolysaccharidoses (MPSs). MPS III is clinically characterized by progressive neurodegeneration. Skeletal disease is not felt to be an important clinical component in MPS III patients, unlike in the other MPSs. We conducted radiographic studies in a relatively large group of MPS III...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cross-Sectional Studies
- DNA Mutational Analysis
- Female
- Femur Head Necrosis
- Genotype
- Heparitin Sulfate
- Humans
- Male
- Mucopolysaccharidosis III
- Netherlands
- Phenotype
- Prevalence
- Radiography