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
1966 1
1972 1
1974 1
1975 1
1976 2
1977 3
1980 2
1982 2
1983 2
1984 1
1985 4
1986 3
1987 3
1988 4
1989 3
1990 6
1991 2
1992 2
1993 9
1994 7
1995 5
1996 6
1997 3
1998 1
1999 9
2000 7
2001 8
2002 25
2003 6
2004 2
2005 8
2006 6
2007 11
2008 14
2009 14
2010 13
2011 9
2012 9
2013 9
2014 11
2015 5
2016 5
2017 7
2018 5
2019 8
2020 9
2021 15
2022 12
2023 6
2024 6

Text availability

Article attribute

Article type

Publication date

Search Results

286 results

Results by year

Filters applied: . Clear all
Page 1
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 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.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. ...
PURPOSE: Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that pri …
Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy.
Chou JY, Jun HS, Mansfield BC. Chou JY, et al. Nat Rev Endocrinol. 2010 Dec;6(12):676-88. doi: 10.1038/nrendo.2010.189. Epub 2010 Oct 26. Nat Rev Endocrinol. 2010. PMID: 20975743 Free PMC article. Review.
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-alpha (G6Pase-alpha) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). ...
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosp …
Liver transplantation in glycogen storage disease type I.
Boers SJ, Visser G, Smit PG, Fuchs SA. Boers SJ, et al. Orphanet J Rare Dis. 2014 Apr 9;9:47. doi: 10.1186/1750-1172-9-47. Orphanet J Rare Dis. 2014. PMID: 24716823 Free PMC article. Review.
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. ...
Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects …
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 …
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group …
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Grünert SC, Derks TGJ, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic MD, Eiroa H, Finezilber Y, Moura de Souza CF, Garcia-Jiménez MC, Gasperini S, Haas D, Häberle J, Halligan R, Fung LH, Hörbe-Blindt A, Horka LM, Huemer M, Uçar SK, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier EM, Maiorana A, McCandless SE, Mitchell JJ, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile PQ, Regier D, Rossi A, Santer R, Schuman HC, Sobieraj P, Spenger J, Spiegel R, Stepien KM, Tal G, Tanšek MZ, Torkar AD, Tchan M, Thyagu S, Schrier Vergano SA, Vucko E, Weinhold N, Zsidegh P, Wortmann SB. Grünert SC, et al. Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3. Genet Med. 2022. PMID: 35503103 Free article.
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH, do Valle DA, Santos MLSF, Telles BA, Cordeiro ML. Muzetti JH, et al. Front Endocrinol (Lausanne). 2021 May 21;12:685272. doi: 10.3389/fendo.2021.685272. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34093448 Free PMC article.
The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease type I consensus. Pathogenic mutations were identified using multigene panel analyses. ...
The criteria of adequate metabolic control were adopted based on the European Study on Glycogen Storage Disease type …
Pregnancy in women with glycogen storage disease Ia and Ib.
Ferrecchia IA, Guenette G, Potocik EA, Weinstein DA. Ferrecchia IA, et al. J Perinat Neonatal Nurs. 2014 Jan-Mar;28(1):26-31. doi: 10.1097/JPN.0000000000000017. J Perinat Neonatal Nurs. 2014. PMID: 24476649 Review.
286 results