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

Year Number of Results
1961 1
1963 1
1964 1
1965 1
1967 2
1968 1
1975 9
1976 5
1977 5
1978 5
1979 8
1980 6
1981 1
1982 7
1983 12
1984 15
1985 6
1986 9
1987 10
1988 5
1989 6
1990 11
1991 10
1992 6
1993 7
1994 7
1995 7
1996 9
1997 12
1998 8
1999 9
2000 9
2001 5
2002 9
2003 7
2004 6
2005 5
2006 6
2007 12
2008 8
2009 13
2010 17
2011 12
2012 15
2013 8
2014 15
2015 20
2016 11
2017 6
2018 11
2019 13
2020 15
2021 11
2022 9
2023 8
2024 5

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428 results

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Page 1
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. ...Individuals with glycogen storage disease type III presen …
PURPOSE: Glycogen storage disease type III is a rare disease of variable clinical severity affecting prim …
Glycogen Storage Disease Type III.
Schreuder AB, Rossi A, Grünert SC, Derks TGJ. Schreuder AB, et al. 2010 Mar 9 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Mar 9 [updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301788 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Glycogen storage disease type III (GSD III) is characterized by variable liver, cardiac muscle, and skeletal muscle involvement. ...
CLINICAL CHARACTERISTICS: Glycogen storage disease type III (GSD III) is characterized by variable liver, …
Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells.
Rossiaud L, Fragner P, Barbon E, Gardin A, Benabides M, Pellier E, Cosette J, El Kassar L, Giraud-Triboult K, Nissan X, Ronzitti G, Hoch L. Rossiaud L, et al. Front Cell Dev Biol. 2023 May 11;11:1163427. doi: 10.3389/fcell.2023.1163427. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37250895 Free PMC article.
Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). ...
Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by mutations in …
French recommendations for the management of glycogen storage disease type III.
Wicker C, Cano A, Decostre V, Froissart R, Maillot F, Perry A, Petit F, Voillot C, Wahbi K, Wenz J, Laforêt P, Labrune P. Wicker C, et al. Eur J Med Res. 2023 Jul 24;28(1):253. doi: 10.1186/s40001-023-01212-5. Eur J Med Res. 2023. PMID: 37488624 Free PMC article. Review.
The aim of the Protocole National De Diagnostic et de Soins/French National Protocol for Diagnosis and Healthcare (PNDS) is to provide advice for health professionals on the optimum care provision and pathway for patients with glycogen storage disease type …
The aim of the Protocole National De Diagnostic et de Soins/French National Protocol for Diagnosis and Healthcare (PNDS) is to provide advic …
Molecular characterization of glycogen storage disease type III.
Shen JJ, Chen YT. Shen JJ, et al. Curr Mol Med. 2002 Mar;2(2):167-75. doi: 10.2174/1566524024605752. Curr Mol Med. 2002. PMID: 11949933 Review.
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III (GSD-III), an autosomal recessive disease affecting glycogen metabolism. ...
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III (GSD-I …
Glycogen storage disease type III: A novel Agl knockout mouse model.
Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP. Pagliarani S, et al. Biochim Biophys Acta. 2014 Nov;1842(11):2318-28. doi: 10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1. Biochim Biophys Acta. 2014. PMID: 25092169 Free article.
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL. ...
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the …
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GPA, Derks TGJ. Sentner CP, et al. J Inherit Metab Dis. 2016 Sep;39(5):697-704. doi: 10.1007/s10545-016-9932-2. Epub 2016 Apr 22. J Inherit Metab Dis. 2016. PMID: 27106217 Free PMC article.
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. ...
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations …
Glycogen storage disease type III: a mixed-methods study to assess the burden of disease.
Evins A, Mayhew J, Cimms T, Whyte J, Vong K, Hribal E, Evans CJ, Grimm A. Evins A, et al. Ther Adv Endocrinol Metab. 2024 Jan 8;15:20420188231224233. doi: 10.1177/20420188231224233. eCollection 2024. Ther Adv Endocrinol Metab. 2024. PMID: 38196773 Free PMC article.
BACKGROUND: Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency. ...
BACKGROUND: Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a …
428 results