[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) …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
metabolism caused by mutations in the glycogen debranching enzyme amylo-1, 6 …