[HTML][HTML] Myopathies related to glycogen metabolism disorders

MA Tarnopolsky - Neurotherapeutics, 2018 - Elsevier
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in
glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL) …

Molecular characterization of glycogen storage disease type III

J Shen, Y Chen - Current molecular medicine, 2002 - ingentaconnect.com
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage
disease type III (GSD-III), an autosomal recessive disease affecting glycogen metabolism …

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

R Santer, M Kinner, U Steuerwald… - European Journal of …, 2001 - nature.com
Glycogen storage disease type IIIA (GSD IIIA) is caused by mutations of the
amyloglucosidase gene (AGL). For most populations, none of the AGL mutations described …

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and …

Y Endo, A Horinishi, M Vorgerd, Y Aoyama… - Journal of human …, 2006 - nature.com
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized
by excessive accumulation of abnormal glycogen in the liver and/or muscles and caused by …

[HTML][HTML] Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with glycogen storage disease type …

JL Goldstein, SL Austin, K Boyette, A Kanaly… - Genetics in …, 2010 - Elsevier
Abstract Purpose Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes
disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient …

Construction and characterization of three BAC libraries for analysis of the chicken genome.

MK Lee, CW Ren, B Yan, B Cox, HB Zhang… - Animal …, 2003 - search.ebscohost.com
Focuses on the construction of a chicken bacterial artificial chromosome (BAC) library for
analysis of chicken genome using HindIII partial digest fragments. Description of chicken …

Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions

A Cheng, M Zhang, M Okubo, K Omichi… - Human molecular …, 2009 - academic.oup.com
Glycogen storage disease type III (GSDIII) is a metabolic disorder characterized by a
deficiency in the glycogen debranching enzyme, amylo-1, 6-glucosidase, 4-α …

Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the mediterranean area

S Lucchiari, I Fogh, A Prelle, R Parini… - American journal of …, 2002 - Wiley Online Library
Abstract Deficiency of amylo‐1, 6‐glucosidase, 4‐α‐glucanotransferase enzyme (AGL or
glycogen debrancher enzyme) is responsible for glycogen storage disease type III, a rare …

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p. R1147G associated with isolated glucosidase deficiency, along …

Y Aoyama, I Ozer, M Demirkol, T Ebara… - Journal of human …, 2009 - nature.com
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by
deficiency in the glycogen debranching enzyme (gene symbol: AGL) with two enzyme …

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

A Mili, I Ben Charfeddine, O Mamaï, W Cherif… - Journal of human …, 2012 - nature.com
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 …