Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry
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DOI: 10.1002/jimd.12272
Abstract: Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa,… read more here.
Keywords: replacement therapy; therapy alglucosidase; enzyme replacement; pompe ... See more keywords
Is the brain involved in patients with late-onset Pompe disease?
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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
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism
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DOI: 10.1002/jimd.12560
Abstract: Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, including dysregulation of cytoplasmic… read more here.
Keywords: lysosomal glycogen; disease; cytoplasmic glycogen; pompe disease ... See more keywords
Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
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DOI: 10.1002/mgg3.1957
Abstract: Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopathy, hypotony, feeding… read more here.
Keywords: pompe disease; gene; gaa gene; novel gaa ... See more keywords
Urodynamic and clinical studies in patients with late‐onset Pompe disease and lower urinary tract symptoms
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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
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease
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DOI: 10.1007/s00109-017-1505-9
Abstract: Pompe disease is characterized by accumulation of both lysosomal and cytoplasmic glycogen primarily in skeletal and cardiac muscles. Mannose-6-phosphate receptor-mediated enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) targets the enzyme to lysosomes… read more here.
Keywords: antibody; glycogen; pompe disease; gaa ... See more keywords
Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD)
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8396-0
Abstract: Pompe disease or glycogen storage disease type II (GSDII; OMIM #232300) is a rare recessive metabolic disorder caused by a deficiency in the lysosomal acid a-glucosidase activity resulting in lysosomal glycogen accumulation in different tissues.… read more here.
Keywords: lopd; late onset; pompe disease; disease ... See more keywords
Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis
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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
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
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DOI: 10.1007/s10545-018-0243-7
Abstract: Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset G mutation was detected… read more here.
Keywords: onset; late onset; epidemiology; nationwide study ... See more keywords
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
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DOI: 10.1007/s12035-017-0763-4
Abstract: In Pompe disease, deficient lysosomal acid α-glucosidase (GAA) activity causes glycogen accumulation in the muscles, which leads to weakness, cardiomyopathy, and respiratory failure. Although glycogen accumulation also occurs in the nervous system, the burden of… read more here.
Keywords: gene therapy; pompe disease; mice; neuron specific ... See more keywords
Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance
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DOI: 10.1007/s40120-019-00157-4
Abstract: Alglucosidase alfa received marketing approval for the treatment of Pompe disease in Japan in 2007. We conducted a post-marketing surveillance study to monitor the long-term safety and efficacy of alglucosidase alfa therapy among Japanese patients… read more here.
Keywords: safety; japanese patients; marketing; pompe disease ... See more keywords