Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients.
|Number of pages||3|
|Publication status||Published - Jul 2007|
- Glycogen storage disease
- Metabolic myopathy
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Clinical Neurology