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Year Number of Results
1973 1
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1981 4
1982 3
1983 2
1984 2
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1986 2
1987 3
1989 1
1990 1
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1992 1
1993 3
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1995 7
1996 1
1997 2
1998 1
1999 2
2000 7
2001 1
2002 7
2003 4
2004 8
2005 3
2006 9
2007 15
2008 11
2009 8
2010 6
2011 10
2012 16
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2014 8
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2016 10
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2018 11
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2020 15
2021 7
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2024 5

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265 results

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Page 1
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ, Rodriguez-Buritica DF, Ahmad A, de Boer F, Couce ML, Grünert SC, Labrune P, López Maldonado N, Fischinger Moura de Souza C, Riba-Wolman R, Rossi A, Saavedra H, Gupta RN, Valayannopoulos V, Mitchell J. Derks TGJ, et al. Nutrients. 2021 Oct 27;13(11):3828. doi: 10.3390/nu13113828. Nutrients. 2021. PMID: 34836082 Free PMC article. Review.
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and ki
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydr
Pompe Disease: From Basic Science to Therapy.
Kohler L, Puertollano R, Raben N. Kohler L, et al. Neurotherapeutics. 2018 Oct;15(4):928-942. doi: 10.1007/s13311-018-0655-y. Neurotherapeutics. 2018. PMID: 30117059 Free PMC article. Review.
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. ...The disease is a glycogen storage disorder, a lysosomal disorder, and an autophagic myopathy. ...
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. ...The …
Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J. Hannah WB, et al. Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. Nat Rev Dis Primers. 2023. PMID: 37679331 Review.
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. ...Management includes surveillance for development of characteristic disease sequelae, avoidance of fasting in sev
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of
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.
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). ...GAA catalyzes the hydrolysis of alpha-1,4 and alpha-1,6-glucosidic bonds of glycogen and i …
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encodin …
Pompe's disease.
van der Ploeg AT, Reuser AJ. van der Ploeg AT, et al. Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. Lancet. 2008. PMID: 18929906 Review.
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading …
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative nam …
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. ...Consequently, the cellular pathogenesis of these diseases is complex and is currently incomplete …
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are …
Glycogen storage diseases: new perspectives.
Ozen H. Ozen H. World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541. World J Gastroenterol. 2007. PMID: 17552001 Free PMC article. Review.
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type II is a prototype of inborn lysosomal storage diseases and involves many organs but primarily the muscle. ...
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...Type II is a
Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Meena NK, Raben N. Meena NK, et al. Biomolecules. 2020 Sep 18;10(9):1339. doi: 10.3390/biom10091339. Biomolecules. 2020. PMID: 32962155 Free PMC article. Review.
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulatio …
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency …
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. ...Long-term survivors with Pompe disea
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-gluc …
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. ...METHODS: Objective is to propose consensus-based treatment and management recommendations for late-onset Po …
INTRODUCTION: Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal e …
265 results