title: Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
abstract: 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.
authors.affiliation: Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Lucchiari
authors.forename: D
authors.initials: D
authors.lastname: Santoro
authors.forename: S
authors.initials: S
authors.lastname: Pagliarani
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
mesh_terms: D004032:Diet; D005260:Female; D005838:Genotype; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D007558:Italy; D008297:Male; D010641:Phenotype
chemical_list: D006004:Glycogen Debranching Enzyme System