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

Year Number of Results
1964 1
1975 2
1976 2
1979 2
1980 1
1981 1
1982 2
1983 2
1984 2
1986 1
1987 1
1988 1
1989 1
1991 2
1992 1
1993 4
1994 2
1996 1
1997 3
1998 1
1999 1
2000 1
2001 1
2002 2
2003 4
2004 1
2006 3
2007 2
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2012 3
2013 3
2014 4
2015 6
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2024 0

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82 results

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Page 1
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. ...However, some patients can exhibit a more severe phenotype and an important progression of the liv …
BACKGROUND: Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and …
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 …
Dietary management in glycogen storage disease type III: what is the evidence?
Derks TG, Smit GP. Derks TG, et al. J Inherit Metab Dis. 2015 May;38(3):545-50. doi: 10.1007/s10545-014-9756-x. Epub 2014 Aug 28. J Inherit Metab Dis. 2015. PMID: 25164784 Review.
In childhood, GSD type III causes relatively severe fasting intolerance, classically associated with ketotic hypoglycaemia. ...Moreover, over-treatment with carbohydrates may even be harmful. The ageing cohort of GSD III patients, including the non-traditiona …
In childhood, GSD type III causes relatively severe fasting intolerance, classically associated with ketotic hypoglycaemia. .. …
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Berling É, Laforêt P, Wahbi K, Labrune P, Petit F, Ronzitti G, O'Brien A. Berling É, et al. J Inherit Metab Dis. 2021 May;44(3):521-533. doi: 10.1002/jimd.12355. Epub 2021 Jan 3. J Inherit Metab Dis. 2021. PMID: 33368379 Review.
Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen debranching enzyme activity, causing inability to fully mobilize glycogen stores and its consequent accumulation in various tissues, …
Glycogen storage disorder type III (GSDIII) is a rare inborn error of metabolism due to loss of glycogen …
Challenges of Gene Therapy for the Treatment of Glycogen Storage Diseases Type I and Type III.
Jauze L, Monteillet L, Mithieux G, Rajas F, Ronzitti G. Jauze L, et al. Hum Gene Ther. 2019 Oct;30(10):1263-1273. doi: 10.1089/hum.2019.102. Epub 2019 Aug 27. Hum Gene Ther. 2019. PMID: 31319709 Review.
Glycogen storage diseases (GSDs) type I (GSDI) and type III (GSDIII), the most frequent hepatic GSDs, are due to defects in glycogen metabolism, mainly in the liver. ...
Glycogen storage diseases (GSDs) type I (GSDI) and type III (GSDIII), the most frequent hepatic GSDs, are …
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 resulti …
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inhe …
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. Most GSD-III patients have AGL deficie …
Deficiency of the glycogen debranching enzyme (gene, AGL) causes glycogen storage disease type III …
Glycogen storage disease type III in Israel: presentation and long-term outcome.
Hershkovitz E, Forschner I, Mandel H, Spiegel R, Lerman-Sagie T, Anikster Y, Zeharia A, Moses S. Hershkovitz E, et al. Pediatr Endocrinol Rev. 2014 Mar;11(3):318-23. Pediatr Endocrinol Rev. 2014. PMID: 24716397 Review.
Glycogen storage disease type III (GSD III) was found in the past with an unusual frequency among North African Jews in Israel. The aim of this study was to review the long-term clinical course of GSD III's patients in Israel. Rele …
Glycogen storage disease type III (GSD III) was found in the past with an unusual frequency among …
Liver transplantation for glycogen storage disease types I, III, and IV.
Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT. Matern D, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. Eur J Pediatr. 1999. PMID: 10603098 Free PMC article. Review.
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. ...It remains to be evaluated, whether a genotype-phenotype correlation exists for GSD type IV, which may aid in the decision making. CONCLUS …
Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. ...It re …
Metabolic cardiomyopathies.
Guertl B, Noehammer C, Hoefler G. Guertl B, et al. Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x. Int J Exp Pathol. 2000. PMID: 11298185 Free PMC article. Review.
A completely different pathogenetic model comprises cardiac manifestation of systemic metabolic diseases caused by deficiencies of various enzymes in a variety of metabolic pathways. Examples of these disorders are glycogen storage diseases (e.g. glycogenosis typ …
A completely different pathogenetic model comprises cardiac manifestation of systemic metabolic diseases caused by deficiencies of various e …
82 results