Results 71 to 80 of about 8,804 (200)
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
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
CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Elena Braha, Alina-Costina Luca
core +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
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
, 2012 How to Cite this Article: Ashrafi MR, Tavasoli AR. Infantile-Onset Pompe Disease. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):7-9. Pls see PDF. References: 1. Kishnani PS, Steiner RD. Pompe disease diagnosis and management guidelines. American J med
ASHRAFI, Mahmoud Reza, TAVASOLI, Alireza
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Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Expanding African contributions to ClinVar through genetic counselor‐led variant curation
Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai +4 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