Article
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Journal of human genetics - 1 Mar 2012
Mili Amira, Ben Charfeddine Ilhem, Mamaï Ons, Abdelhak Sonia, Adala Labiba, Amara Abdelbasset, Pagliarani Serena, Lucchiarri Sabrina, Lucchiari Sabrina, Ayadi Abdelkarim, Tebib Neji, Harbi Abdelaziz, Bouguila Jihene, H'Mida Dorra, Saad Ali, Limem Khalifa, Comi G P, Gribaa Moez
Abstract excerpt
Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ...
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