Rare case of type II glycogen storage disease [PDF]
Research Result. MEDICINE AND PHARMACY SERIES, 2015 The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Khabibullin, R. R. +4 more
core +7 more sources
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease) [PDF]
Animals, 2023 Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene.
Tofazzal Md Rakib +8 more
doaj +4 more sources
Progress in enzyme replacement therapy in glycogen storage disease type II [PDF]
Therapeutic Advances in Neurological Disorders, 2009 Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an ...
Corrado Angelini +6 more
doaj +6 more sources
Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease) [PDF]
Frontiers in Neurology, 2022 Pompe disease is an autosomal recessive hereditary lysosomal disorder and correlated with acid α-glucosidase enzyme (GAA) deficiencies, which lead to accumulation of glycogen in all tissues, most notably in skeletal muscles.
Huiting Zhang +4 more
doaj +3 more sources
Pulmonary Hypertension in Glycogen Storage Disease Type II [PDF]
Chinese Medical Journal, 2018 Hui-Ping Li +6 more
doaj +4 more sources
Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II [PDF]
Scientific Reports, 2022 Electrical impedance methods, including electrical impedance myography, are increasingly being used as biomarkers of muscle health since they measure passive electrical properties of muscle that alter in disease.
Janice A. Nagy +4 more
doaj +2 more sources
Late-Onset Glycogen Storage Disease Type II (Pompe’s Disease) with a Novel Mutation: A Malaysian Experience [PDF]
Case Reports in Neurological Medicine, 2014 Pompe’s disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of ...
Hiew Fu Liong +5 more
doaj +2 more sources
Perioperative management of children with glycogen storage disease type II-Pompe disease [PDF]
Pediatric Anesthesia, 2018 Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and ...
Bosman, L. (Linelot) +5 more
core +4 more sources
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). [PDF]
Cell Death Differ, 2012 Regulated removal of proteins and organelles by autophagy-lysosome system is critical for muscle homeostasis. Excessive activation of autophagy-dependent degradation contributes to muscle atrophy and cachexia. Conversely, inhibition of autophagy causes accumulation of protein aggregates and abnormal organelles, leading to myofiber degeneration and ...
Nascimbeni AC +4 more
europepmc +4 more sources
LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
Lancet, The, 1983 A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper +15 more
exaly +3 more sources