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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 …
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, Vie M, Krimi Benchekroun Y, Cosette J, Bertin B, La Bella T, Dubreuil G, Nozi J, Jauze L, Fragnoud R, Daniele N, Van Wittenberghe L, Esque J, André I, Nissan X, Hoch L, Ronzitti G. Gardin A, et al. J Clin Invest. 2024 Jan 16;134(2):e172018. doi: 10.1172/JCI172018. J Clin Invest. 2024. PMID: 38015640 Free PMC article.
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen debranching enzyme (GDE). ...
Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal
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 Debrancher Enzyme Deficiency Myopathy.
Sadeh M, Yosovich K, Dabby R. Sadeh M, et al. J Clin Neuromuscul Dis. 2021 Jun 1;22(4):224-227. doi: 10.1097/CND.0000000000000339. J Clin Neuromuscul Dis. 2021. PMID: 34019008
Glycogen storage disease type III is a rare inherited disease caused by decreased activity of glycogen debranching enzyme. ...
Glycogen storage disease type III is a rare inherited disease caused by decreased activity of glycogen de
36 results