Results 61 to 70 of about 8,917 (217)
Effectiveness of Respiratory Muscle Training in Pompe Disease: A Systematic Review and Meta-Analysis
ChildrenBackground: Pompe disease is a rare metabolic myopathy caused by the lack or deficiency of the lysosomal acid alpha-glucosidase, resulting in skeletal muscle weakness and cardiomyopathy.
Mu-Yun Lin +3 more
doaj +1 more source
Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease
Case Reports in Pediatrics, 2019 Introduction. Pompe disease is an autosomal recessive lysosomal storage disorder with marked morbidity and mortality, if untreated. With the advent of enzyme replacement therapy, it is essential to identify the infantile-type as early as possible to ...
Allison M. Jay +2 more
doaj +1 more source
Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease [PDF]
, 2023 Lina Fiege +2 more
openalex +1 more source
Impact of Anesthesia Strategy on Infant Pulmonary Function Test Quality and Duration
Pediatric Pulmonology, Volume 61, Issue 1, January 2026.ABSTRACT Introduction While chloral hydrate (CH) has been standard for infant pulmonary function testing (iPFT) sedation, CH shortages are necessitating use of different sedation approaches. We aimed to compare the safety, test duration, and test quality of alternative sedation strategies for iPFT.
Aditi K. Zaveri +5 more
wiley +1 more source
Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen +3 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
Advances in Respiratory Medicine, 2008 Pompe disease (glycogen-storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-glucosidase (GAA), leading to the accumulation of glycogen in the lysosomes primarily in muscle cells. In the adult form of the disease, proximal muscle weakness is noted and muscle volume is decreased.
Ziółkowska-Graca, Bożena +3 more
openaire +3 more sources
European Journal of Neurology, Volume 33, Issue 1, January 2026.This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá +14 more
wiley +1 more source
Experimental Physiology, Volume 111, Issue 1, Page 153-166, 1 January 2026.Abstract Glycogen storage disease III (GSD‐III) is caused by an inherited deficiency of the glycogen debranching enzyme. Affecting the liver, muscle and heart, GSD‐IIIa is the most common GSD‐III subtype. We evaluated the feasibility and safety of a physical exercise intervention in patients with GSD‐IIIa and its effects at the multisystem level.
Asunción Bustos‐Sellers +14 more
wiley +1 more source