Results 11 to 20 of about 22,388 (216)
Lessons Learned from Pompe Disease Newborn Screening and Follow-up
International Journal of Neonatal Screening, 2020 In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services.
Tracy L. Klug +4 more
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AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]
, 2017 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia +13 more
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Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]
, 2016 Background Late-onset Pompe disease is characterized by progressive skeletal myopathy followed by respiratory muscle weakness, typically leading to loss of ambulation and respiratory failure.
et al,, Pestronk, Alan
core +7 more sources
East European Journal of Neurology, 2017 . Pompe disease is a rare, progressive disease, the basis of which is the pathogenesis of excessive accumulation of glycogen by lysosomes due to mutation of the GAA gene and loss of activity of the enzyme acidic α-glucosidase. Preferred accumulation of glycogen is noted in cross-linked muscles, but can vary in degrees in other organs and tissues ...
N. Svystun, О. Yelizarova, N. Svyrydova
openaire +3 more sources
Hypothyroidism in late-onset Pompe disease
Molecular Genetics and Metabolism Reports, 2016 Purpose: In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms ...
Joseph Schneider +4 more
doaj +1 more source
ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE
Педиатрическая фармакология, 2014 Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation.
E. N. Basargina +2 more
doaj +1 more source
Pediatria Polska, 2021 The paper presents the case of a 12-year-old boy hospitalised due to persistent hypertransaminasemia of unknown origin, in whom rare metabolic disease – Pompe disease, was finally diagnosed.
Ewa Grzywna, Jarosław Kwiecień
doaj +1 more source
Cells, 2020 Pompe disease is a lysosomal storage disorder caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene. Acid alpha-glucosidase deficiency leads to abnormal glycogen accumulation in patient cells.
Yu-Shan Cheng +7 more
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Enzyme-replacement Therapy in Classic Infantile Pompe Disease: Long-term outcome, dosing and the role of antibodies [PDF]
, 2013 __Abstract__ The introduction of enzyme-replacement therapy (ERT) in 2006 has dramatically increased the interest in Pompe disease. In the three decades following the discovery of acid a-glucosidase deficiency as cause of the disease by H.G. Hers in
Van Gelder, C.M. (Carin)
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Perioperative management of children with glycogen storage disease type II-Pompe disease [PDF]
, 2018 Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and ...
Bosman, L. (Linelot) +5 more
core +1 more source