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1995 1
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2012 7
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Page 1
Consensus treatment recommendations for late-onset Pompe disease.
Cupler EJ, Berger KI, Leshner RT, Wolfe GI, Han JJ, Barohn RJ, Kissel JT; AANEM Consensus Committee on Late-onset Pompe Disease. Cupler EJ, et al. Muscle Nerve. 2012 Mar;45(3):319-33. doi: 10.1002/mus.22329. Epub 2011 Dec 15. Muscle Nerve. 2012. PMID: 22173792 Free PMC article. Review.
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous c …
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lyso …
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 …
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. ...Treatment is now available with intravenous infusion of …
Glycogen storage disease type II, also known as Pompe's disease or acid maltase d …
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 (IOPD) and …
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the …
Cipaglucosidase Alfa: First Approval.
Blair HA. Blair HA. Drugs. 2023 Jun;83(8):739-745. doi: 10.1007/s40265-023-01886-5. Drugs. 2023. PMID: 37184753 Free PMC article. Review.
Pompe disease is a rare, inherited lysosomal disease caused by a deficiency of the enzyme GAA, which leads to accumulation of glycogen in various tissues. On 27 March 2023, cipaglucosidase alfa was approved in the EU as a long-term enzyme replacement t …
Pompe disease is a rare, inherited lysosomal disease caused by a deficiency of the enzyme GAA, which leads to accumulat …
Enzyme replacement therapy for late-onset Pompe disease.
Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T. Dalmia S, et al. Cochrane Database Syst Rev. 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. Cochrane Database Syst Rev. 2023. PMID: 38084761 Review.
BACKGROUND: Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). People with infantile-onset disease have either a complete or a near-complete enzyme deficiency; people with late-onset Pompe diseas …
BACKGROUND: Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). People with infantile-o …
Avalglucosidase alfa: First Approval.
Dhillon S. Dhillon S. Drugs. 2021 Oct;81(15):1803-1809. doi: 10.1007/s40265-021-01600-3. Drugs. 2021. PMID: 34591286 Review.
Pompe disease is an autosomal recessive lysosomal storage disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), which results in intralysosomal accumulation of glycogen in various tissues. ...This article su …
Pompe disease is an autosomal recessive lysosomal storage disease caused by a deficiency of the lysosomal enzyme …
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J, Desai AK, Kazi ZB, Corey K, Austin S, Hobson-Webb LD, Case LE, Jones HN, Kishnani PS. Chan J, et al. Mol Genet Metab. 2017 Mar;120(3):163-172. doi: 10.1016/j.ymgme.2016.12.004. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 28185884 Review.
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid alpha-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characteri …
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing …
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 infantile a …
Pompe disease gene therapy.
Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, Elmallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS. Byrne BJ, et al. Hum Mol Genet. 2011 Apr 15;20(R1):R61-8. doi: 10.1093/hmg/ddr174. Epub 2011 Apr 25. Hum Mol Genet. 2011. PMID: 21518733 Free PMC article. Review.
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. ...However, it has become apparent that a new na …
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha- …
65 results