Rare Diseases in Neurology — Caring for a Patient with Pompe’s Disease
Pielęgniarstwo Neurologiczne i Neurochirurgiczne, 2019 Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alpha-glucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was
Anna Roszmann +2 more
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Commodity risk assessment of Vitis spp. plants from Moldova
EFSA Journal, Volume 24, Issue 1, January 2026.Abstract The European Commission requests EFSA to provide scientific opinions in the field of plant health in accordance with Article 29 of Regulation (EC) No 178/2002. Annex VI of Commission Implementing Regulation (EU) 2019/2072 lists plants, plant products and other objects whose introduction into the Union from certain third countries is prohibited.
EFSA Panel on Plant Health (PLH) +37 more
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Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients [PDF]
, 2021 David Reyes‐Leiva +8 more
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Skeletal muscle metabolism during prolonged exercise in Pompe disease
Endocrine Connections, 2017 Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown.
Nicolai Preisler +8 more
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A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease [PDF]
, 2022 Kabir Jalal +4 more
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Нервно-мышечные болезни, 2018 Pompe disease is a hereditary autosomal recessive disease characterized by accumulation of glycogen due to decreased activity of acid α-glucosidase enzyme in lysosomes. The disease can develop at any age.
L. A. Kuzina, G. S. Kaishibayeva
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Infantile Pompe Disease: Atypical Variant
Journal of Neuromuscular Diseases, 2015 Pompe disease (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in which an alpha-glucosidase (GAA) defi ciency causes intralysosomal accumulation of glycogen in all tissues, notably skeletal muscles. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in
Thaís, Rodrigues, Carlo D, Marrone
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Improved efficacy of a next-generation ERT in murine Pompe disease [PDF]
, 2019 Su Xu +18 more
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Clinical and Genetic Aspects of Pompe Disease: A Review of Current Knowledge
Quality in Sport: Introduction: Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase.
Agata Konopka +4 more
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Quality in SportIntroduction: Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase.
Agata Konopka +3 more
doaj +1 more source