Article
[Lysosomal storage diseases].
Zeitschrift fur Rheumatologie - 1 Aug 2010
Manger B
Abstract excerpt
Lysosomal storage diseases are a heterogeneous group of disorders caused by lysosomal enzyme dysfunction. Individually they are very rare, but this group as a whole has a prevalence of more than 1:8,000 live births. While severe phenotypes are easily diagnosed this can be a real challenge with attenuated forms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical...
Topics
- Adolescent
- Adult
- Child
- Cooperative Behavior
- Diagnosis, Differential
- Enzyme Replacement Therapy
- Fabry Disease
- Gaucher Disease
- Glycogen Storage Disease
- Humans
- Interdisciplinary Communication
- Lysosomal Storage Diseases
- Mucolipidoses
- Mucopolysaccharidoses
- Phenotype
- Rare Diseases
- Sphingolipidoses
- Young Adult