
Glycogen Storage Disease Type III - GeneReviews® - NCBI Bookshelf
2010年3月9日 · Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, …
Glycogen storage disease type III - Wikipedia
Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in …
Glycogen Storage Disease Type III - Symptoms, Causes, Treatment …
2017年10月12日 · GSD-IIIa is the most common type, affecting 85%, and affects both the liver and (cardiac and/or skeletal) muscles. GSD-IIIb affects about 15% of individuals and only …
Glycogen Storage Disease Type III diagnosis and management
2010年9月1日 · Muscle involvement and elevated CK concentrations can occur in GSD IIIa, some hepatic forms of GSD IX, McArdle disease, and late onset GSD II (Pompe disease) but with …
Glycogen storage disease type III - MedlinePlus
GSD types IIIa and IIIb are the most common forms of this condition. Beginning in infancy, individuals with any type of GSDIII may have low blood glucose (hypoglycemia), excess …
Glycogen storage disease type III: diagnosis, genotype, …
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. …
Entry - #232400 - GLYCOGEN STORAGE DISEASE III; GSD3 - OMIM
Glycogen storage disease III (GSD3) is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of …
Glycogen storage disease type III (Concept Id: C0017922)
Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. GSD IIIa is the most common subtype, present in about 85% of …
Cardiac Pathology in Glycogen Storage Disease Type III - PMC
Cardiac involvement is a well-known feature in several glycogen storage diseases (GSDs) such as types II, III, IV, and IX and PRKAG2, a gene that encodes the regulatory γ2-subunit of AMP …
IIIA型糖原贮积病 - 药物、靶点、专利 - 智慧芽新药情报库
Abstract Dietary lipid manipulation has recently been proposed for managing glycogen storage disease (GSD) type IIIa. This study aimed to evaluate the myopathic, cardiac, and metabolic …