Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 6
1964 8
1965 2
1966 2
1967 6
1968 12
1969 8
1970 18
1971 14
1972 18
1973 11
1974 10
1975 12
1976 8
1977 10
1978 6
1979 11
1980 4
1981 9
1982 14
1983 8
1984 8
1985 4
1986 9
1987 6
1988 10
1989 8
1990 10
1991 16
1992 12
1993 25
1994 15
1995 24
1996 10
1997 13
1998 23
1999 9
2000 24
2001 30
2002 37
2003 17
2004 20
2005 10
2006 20
2007 37
2008 28
2009 26
2010 20
2011 29
2012 31
2013 40
2014 33
2015 34
2016 23
2017 27
2018 35
2019 40
2020 47
2021 35
2022 26
2023 25
2024 7

Text availability

Article attribute

Article type

Publication date

Search Results

1,035 results

Results by year

Filters applied: . Clear all
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 kidney, p
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate met
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 with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Massese M, et al. Orphanet J Rare Dis. 2022 Jun 20;17(1):241. doi: 10.1186/s13023-022-02387-6. Orphanet J Rare Dis. 2022. PMID: 35725468 Free PMC article. Review.
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but muscular and renal tubular involvement, d …
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, de …
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 …
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'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 to lysosomal …
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the sam …
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. ...There are over 12 types and they are classified based on the enzyme deficiency and the affected tissue. Disorders of glycogen degradation may affect primarily
Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. ...There are over 12 types an
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from …
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited m …
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 accumulation of glycog
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single e …
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 …
1,035 results