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
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 +2 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 +2 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 +5 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
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. [PDF]
Autophagy, 2012 The autophagy-lysosome system is essential for muscle cell homeostasis and its dysfunction has been linked to muscle disorders that are typically distinguished by massive autophagic buildup. Among them, glycogen storage disease type II (GSDII) is characterized by the presence of large glycogen-filled lysosomes in the skeletal muscle, due to a defect in
Nascimbeni AC +4 more
europepmc +5 more sources
Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease [PDF]
International Breastfeeding JournalBackground Pompe disease is an autosomal recessively inherited lysosomal storage disorder, caused by enzyme deficiency of acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in lysosomes and subsequent muscle dysfunction ...
Magdalena Bachmann +7 more
doaj +2 more sources
Pompe Disease and Infantile Spinal Muscular Atrophy: Association or Coïncidence? [PDF]
Iranian Journal of Neonatology, 2022 Background: Pompe disease (P.D.), also known as Glycogen storage disease type II, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (AAA) or maltase acid.
Hanae Aouraghe +4 more
doaj +1 more source
Health Technology AssessmentBackground Late-onset Pompe disease is a rare inherited genetic condition that causes progressive muscle dysfunction and damage. As the disease advances, the progressive weakening of respiratory muscles significantly increases the risk of respiratory ...
Mark Corbett +9 more
doaj +2 more sources