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
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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
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Brain Damage in Glycogen Storage Disease Type I
Pediatric Neurology Briefs, 2004 The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
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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
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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
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Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. [PDF]
PLoS ONE, 2013 Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that ...
Kristin M Taylor +6 more
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Pulmonary Hypertension in Glycogen Storage Disease Type II [PDF]
Chinese Medical Journal, 2018 Hui-Ping Li +6 more
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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
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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
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Pompe Disease: New Developments in an Old Lysosomal Storage Disorder
Biomolecules, 2020 Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
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