Results 51 to 60 of about 6,173 (169)
Animal Models and Experimental Medicine, Volume 9, Issue 7, Page 1469-1479, July 2026.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT With increased survival due to enzyme replacement therapy, children with classic infantile Pompe disease tend to develop a clinical phenotype with pronounced distal muscle weakness, while late‐onset patients typically exhibit proximal muscle weakness.
Jan J. A. van den Dorpel +7 more
wiley +1 more source
Cipaglucosidase alfa-atga: Unveiling new horizons in Pompe disease therapy
Health Sciences ReviewPompe disease is a lysosomal storage disease characterized by impaired glycogen breakdown due to an acid α-glucosidase (GAA) enzyme deficiency. Without therapy, children with the severe infantile form do not survive past their first year of life ...
Arshdeep Singh +7 more
doaj +1 more source
Small, Volume 22, Issue 39, 13 July 2026.Saccharide‐appended cyclic dipeptides are designed and developed as building blocks for glycosidase‐responsive supramolecular hydrogels. Their aqueous self‐assembly enables β‐galactosidase‐triggered gel‐to‐sol and neuraminidase‐triggered sol‐to‐gel transition systems, highlighting their potential as glycosidase‐responsive soft materials for biomedical ...
Shintaro Sugiura +6 more
wiley +1 more source
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
doaj +1 more source
An Unusual Etiology of Bayés' Syndrome: Fabry Disease
Annals of Noninvasive Electrocardiology, Volume 31, Issue 4, July 2026.This patient with gene confirmed Fabry disease had advanced interatrial conduction block as seen on atrial‐specific vector tracing demonstrating sinus bradycardia with first‐degree AV block and sinus P‐wave terminal delay with biphasic morphology. The patient was later diagnosed with atrial fibrillation, which led to the diagnosis of Bayés' syndrome ...
Nicholas E. Kunce +3 more
wiley +1 more source
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
doaj +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 7, July 2026.Illustrating motor function changes before the switch, during the first year, and during the second year after switching treatment. ABSTRACT Late‐onset Pompe disease (LOPD) is a progressive myopathy. Enzyme replacement therapy is effective, but long‐term outcomes vary.
Céline Tard +55 more
wiley +1 more source