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Page 1
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Taverna S, et al. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3. Aging (Albany NY). 2020. PMID: 32745073 Free PMC article. Review.
GAA catalyzes the hydrolysis of alpha-1,4 and alpha-1,6-glucosidic bonds of glycogen and its deficiency leads to lysosomal storage of glycogen in several tissues, particularly in muscle. PD is a chronic and progressive pathology usually characterized b …
GAA catalyzes the hydrolysis of alpha-1,4 and alpha-1,6-glucosidic bonds of glycogen and its deficiency leads to lysosomal …
Advances in diagnosis and management of Pompe disease.
Davison JE. Davison JE. J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. J Mother Child. 2020. PMID: 33554498 Free PMC article. Review.
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifes …
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid …
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M. Labella B, et al. Biomolecules. 2023 Aug 22;13(9):1279. doi: 10.3390/biom13091279. Biomolecules. 2023. PMID: 37759679 Free PMC article. Review.
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease …
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the …
Late-onset Pompe's disease.
Teener JW. Teener JW. Semin Neurol. 2012 Nov;32(5):506-11. doi: 10.1055/s-0033-1334469. Epub 2013 May 15. Semin Neurol. 2012. PMID: 23677658 Review.
Glycogen storage disease type II, also known as Pompe's disease or acid maltase deficiency, is caused by a deficiency in acid alpha-glucosidase. Severe enzyme deficiency results in infantile …
Glycogen storage disease type II, also known as Pompe's disease or acid maltase d …
Enzyme replacement therapy for infantile-onset Pompe disease.
Chen M, Zhang L, Quan S. Chen M, et al. Cochrane Database Syst Rev. 2017 Nov 20;11(11):CD011539. doi: 10.1002/14651858.CD011539.pub2. Cochrane Database Syst Rev. 2017. PMID: 29155436 Free PMC article. Review.
BACKGROUND: Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). ...SELECTION CRITERIA: Randomized and quasi-randomized controlled trial …
BACKGROUND: Infantile-onset Pompe disease is a rare and progressive autosomal-recessive disorder caused by a deficie …
Spectrum of metabolic myopathies.
Angelini C. Angelini C. Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2. Biochim Biophys Acta. 2015. PMID: 24997454 Free article. Review.
A typical disorder where permanent weakness occurs is glycogenosis type II (GSDII or Pompe disease) both in infantile and late-onset forms, where respiratory insufficiency is manifested by a large number of cases. ...This review is focused on re …
A typical disorder where permanent weakness occurs is glycogenosis type II (GSDII or Pompe disease) both in infantil …
Autophagic vacuolar myopathy.
Nishino I. Nishino I. Semin Pediatr Neurol. 2006 Jun;13(2):90-5. doi: 10.1016/j.spen.2006.06.004. Semin Pediatr Neurol. 2006. PMID: 17027858 Review.
However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathies (AVMs), of which Danon disease, originally called "lysosomal glycogen storage disease with normal acid …
However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathie …
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.
Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, Pascarella A, Spadaro G, Concolino D, Burlina A, Parenti G, Strisciuglio P, Fiumara A, Casa RD. Gragnaniello V, et al. Ital J Pediatr. 2022 Mar 5;48(1):41. doi: 10.1186/s13052-022-01219-4. Ital J Pediatr. 2022. PMID: 35248118 Free PMC article. Review.
BACKGROUND: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1-2 years of life. ...It i …
BACKGROUND: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within …
Skeletal muscle magnetic resonance imaging in Pompe disease.
Díaz-Manera J, Walter G, Straub V. Díaz-Manera J, et al. Muscle Nerve. 2021 May;63(5):640-650. doi: 10.1002/mus.27099. Epub 2020 Nov 6. Muscle Nerve. 2021. PMID: 33155691 Review.
Pompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable degree of disability. ...In addition, quantitative MRI studies have shown a progressive increase in fat in skeletal muscles of LOPD over ti …
Pompe disease is characterized by a deficiency of acid alpha-glucosidase that results in muscle weakness and a variable …
The impact of Pompe disease on smooth muscle: a review.
McCall AL, Salemi J, Bhanap P, Strickland LM, Elmallah MK. McCall AL, et al. J Smooth Muscle Res. 2018;54(0):100-118. doi: 10.1540/jsmr.54.100. J Smooth Muscle Res. 2018. PMID: 30787211 Free PMC article. Review.
Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid alpha-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. ...The advent of enzyme replacement therapy (ERT) in …
Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid alpha-glucosidase …
45 results