Is the brain involved in patients with late-onset Pompe disease?
Sign Up to like & getrecommendations! Published in 2021 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12469
Abstract: OBJECTIVE To investigate brain structure, cerebral vasculature and cognitive function in a cohort of patients with late-onset Pompe disease, with particular reference to the differences from those with the classic-infantile phenotype, where extensive white matter… read more here.
Keywords: late onset; brain; onset pompe; patients late ... See more keywords
Urodynamic and clinical studies in patients with late‐onset Pompe disease and lower urinary tract symptoms
Sign Up to like & getrecommendations! Published in 2020 at "Neurourology and Urodynamics"
DOI: 10.1002/nau.24369
Abstract: In late‐onset Pompe disease (LOPD), a lysosomal storage disorder with glycogen accumulation in several tissues, patients suffer from progressive skeletal muscle weakness. Lower urinary tract symptoms (LUTS) have rarely been reported. The aim of this… read more here.
Keywords: late onset; urinary tract; onset pompe; tract symptoms ... See more keywords
Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurology"
DOI: 10.1007/s00415-019-09401-1
Abstract: BackgroundLate-onset Pompe disease (LOPD) is a rare, metabolic disease primarily affecting the musculoskeletal and respiratory systems. Forced vital capacity (FVC) is commonly used to measure pulmonary function; however, associations between FVC and other LOPD outcomes… read more here.
Keywords: vital capacity; disease; onset pompe; pompe disease ... See more keywords
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.03.005
Abstract: We performed targeted population screening of late onset Pompe disease (LOPD) in unspecified myopathy patients, because early diagnosis is difficult due to its heterogeneous clinical features. We prospectively enrolled 90 unrelated myopathic patients who had… read more here.
Keywords: late onset; targeted population; screening late; onset pompe ... See more keywords
Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial
Sign Up to like & getrecommendations! Published in 2020 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2020.09.023
Abstract: To address progressive respiratory muscle weakness in late-onset Pompe disease (LOPD), we developed a 12-week respiratory muscle training (RMT) program. In this exploratory, double-blind, randomized control trial, 22 adults with LOPD were randomized to RMT… read more here.
Keywords: late onset; respiratory muscle; group; onset pompe ... See more keywords
Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?
Sign Up to like & getrecommendations! Published in 2021 at "Pulmonology"
DOI: 10.1016/j.pulmoe.2021.06.002
Abstract: Late-onset Pompe disease (LOPD) is an autosomal recessive disease caused by acid alpha glucosidase deficiency. The phenotype is a progressive proximal myopathy. Respiratory failure is the main life-threatening complication, usually resulting from diaphragm weakness, which… read more here.
Keywords: late onset; disease lopd; test; onset pompe ... See more keywords
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2016.12.004
Abstract: BACKGROUND Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal,… read more here.
Keywords: late onset; disease; onset pompe; review ... See more keywords
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100591
Abstract: Objective Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity, age at first treatment, dosage, and dosing regimens. We report the… read more here.
Keywords: ert; onset pompe; pompe disease; dosage ... See more keywords
Quantitative muscle ultrasound and electrical impedance myography in late onset Pompe disease: A pilot study of reliability, longitudinal change and correlation with function
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100785
Abstract: Background/objectives Late-onset Pompe disease (LOPD) is slowly progressive, making it difficult to assess clinical change and response to interventions. In this study, quantitative muscle ultrasonography (QMUS) and electrical impedance myography (EIM) were evaluated as potential… read more here.
Keywords: late onset; pompe; muscle; onset pompe ... See more keywords
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Sign Up to like & getrecommendations! Published in 2021 at "Neuropediatrics"
DOI: 10.1055/s-0041-1735250
Abstract: Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype… read more here.
Keywords: genetic aspects; clinical genetic; disease; onset pompe ... See more keywords
Infantile-onset Pompe disease with neonatal debut
Sign Up to like & getrecommendations! Published in 2017 at "Medicine"
DOI: 10.1097/md.0000000000009186
Abstract: Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes… read more here.
Keywords: neonatal debut; disease; onset pompe; disease neonatal ... See more keywords