Glycogen Storage Disease IIIA

Glycogenosis type III (GSD III) is an autosomal recessive disorder due to amylo-1,6-glucosidase deficiency. This disease causes… (More)

Myopathic symptoms in Glycogen Storage Disease Type IIIa (GSD IIIa) are generally ascribed to the muscle wasting that these… (More)

We investigated the feasibility of using recombinant human acid-α glucosidase (rhGAA, Alglucosidase alfa), an FDA approved… (More)

In glycogen storage disease type III (GSD III), deficiency of the debranching enzyme causes storage of an intermediate glycogen… (More)

PURPOSE To investigate the distribution and clinical impact of glycogen accumulation on heart structure and function in… (More)

Glycogen storage diseases (GSDs) comprise a large, heterogeneous group of disorders characterized by abnormal glycogen deposition… (More)

Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen… (More)

Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen… (More)

Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme… (More)

Subjects with glycogen storage disease type III (GSD III, debrancher enzyme deÐciency ; McKusick 232400) are at risk of… (More)