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Your search for Glycogen storage disease IIId AND humans[mesh] AND review[publication type] retrieved no results
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 …
Glycogen and its metabolism: some new developments and old themes.
Roach PJ, Depaoli-Roach AA, Hurley TD, Tagliabracci VS. Roach PJ, et al. Biochem J. 2012 Feb 1;441(3):763-87. doi: 10.1042/BJ20111416. Biochem J. 2012. PMID: 22248338 Free PMC article. Review.
There has been debate over the relative importance of allosteric compared with covalent control of the key biosynthetic enzyme, glycogen synthase, as well as the relative importance of glucose entry into cells compared with glycogen synthase regulation in determinin …
There has been debate over the relative importance of allosteric compared with covalent control of the key biosynthetic enzyme, glycogen
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 …
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manife …
Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosyla …
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. .. …
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 …
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
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
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
98 results