Results 31 to 40 of about 8,804 (200)
Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II
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 +1 more source
Cells, 2023 Pompe disease is a rare genetic metabolic disorder caused by mutations in acid-alpha glucoside (GAA) leading to pathological lysosomal glycogen accumulation associated with skeletal muscle weakness, respiratory difficulties and cardiomyopathy, dependent ...
Marlena Rohm +8 more
doaj +1 more source
International Journal of Neonatal Screening, 2020 Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the ...
Kshea Hale +4 more
doaj +1 more source
Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. [PDF]
, 2013 Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due a mutation in the acid alpha glucosidase (GAA) gene.
Hundsberger, Thomas +3 more
core +1 more source
International Journal of Neonatal Screening, 2018 Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in ...
Shu-Chuan Chiang +7 more
doaj +1 more source
Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. [PDF]
, 2019 Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen ...
Schoser, Benedikt +4 more
core +1 more source
Newborn Screening for Pompe Disease [PDF]
International Journal of Neonatal Screening, 2020 Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity.
Takaaki Sawada +2 more
openaire +3 more sources
Molecular Genetics and Metabolism Reports, 2021 Background: The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database.
Kyung Sun Park
doaj +1 more source
Infantile Pompe disease with intrauterine onset: a case report and literature review
Italian Journal of Pediatrics, 2022 Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions.
Hongmin Xi +5 more
doaj +1 more source
Pompe disease: Clinical perspectives [PDF]
, 2017 Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage disease type II.
Marsden, Deborah +1 more
core +1 more source