Glycogen storage disease
Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease
... Institute, Bethesda, MD, USA; 4 Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA Glycogen storage disease ...
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Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease
... Glycogen storage disease type 1 (GSD1) is a rare metabolic disorder characterized by the absence of endogenous glucose production, leading to severe hypoglycemia following a short fast (Chou et ...
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Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
... on Glycogen Storage Disease Type 1 (ESGSDI) focused on the complete cohort of GSD Ia patients, but longitudinal data on clinical heterogeneity between individual GSD Ia patients have been poorly ...
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Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice
... 21. Ghosh, A., Allamarvdasht, M., Pan, C.J., Sun, M.S., Mansfield, B.C., Byrne, B.J. and Chou, J.Y. (2006) Long-term correction of murine glycogen storage disease type Ia by recombinant ...
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G6PC mRNA Therapy Positively Regulates Fasting Blood Glucose and Decreases Liver Abnormalities in a Mouse Model of Glycogen Storage Disease 1a
... tions. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase / mouse model (L-G6PC / ) that exhibits the same hepatic biomarkers asso- ciated with GSD1a patients, such as fasting hypoglycemia, ...
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en fr Characterization of a new mouse model of glycogen storage disease type 1a : from glucose homeostasis to gene therapy Caractérisation d’un nouveau modèle murin de glycogénose de type 1a : du métabolisme glucidique à la thérapie génique
... Des atteintes rénale et intestinale sont également retrouvées dans ce type de glycogénose, en raison de l’expression de la G6Pase au niveau du rein et de l’intestin.. la maladie de Cori [r] ...
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FoxO3a overexpression prevents both glycogen overload and autophagic buildup in skeletal muscle of Pompe disease
... Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder caused by the mutation of acid α-glucosidase (Gaa), the unique enzyme degrading glycogen in ...
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FoxO3a overexpression prevents both glycogen overload and autophagic buildup in Pompe disease
... Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder caused by the mutation of acid α-glucosidase (Gaa), the unique enzyme degrading glycogen in ...
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Multiscale time-resolved fluorescence study of a glycogen phosphorylase inhibitor combined with quantum chemistry calculations
... D -glucopyranosyl)-N 4 -[2-acridin-9(10H)-onyl]-cytosine (GLAC), the first fluorescent potent inhibitor of glycogen phosphorylase (GP), in neutral aqueous solution, is presented herein. Quantum chemistry (TD-DFT) ...
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Ollier disease.
... Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is ...Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely ...
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Chit-based Remote Storage
... THE STORAGE PROBLEM Alice is an ordinary computer user in a computationally pervasive ...level storage service providers who know how to reliably store bits would like to solve Alice's storage ...
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Cryptographic cloud storage framework
... This KDF succeeds in using up resources, other than time, that the attacker has to worry about, again meeting the goal of the function. This function offers the l[r] ...
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Food Storage in Permafrost
... Food storage places in permafrost may be of two types: small pits intended for individual use and larger storage cellars for industrial or commercial use.. The first type is generally on[r] ...
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Dependability in cloud storage
... the Storage Accelerator. Data stored at the Storage Accelerator by the Storage Proxy are aimed to be outsourced to public CSPs or in the Private Data Store (See the next point for more information ...
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Dihydrogen Storage and distribution
... Solid state hydrogen storage Adsorption on surface Carbon Nanotube Synthesis A) High Temperature vaporisation condensation Electric arc, T= 6000°C Laser, T= 4800°C. SWCNT (zi[r] ...
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Babel Storage: Uncoordinated Content Delivery from Multiple Coded Storage Systems
... multiple storage systems using an identical code incurs a loss in transmission efficiency (in comparison to coordinated content delivery) due to a coupon collector ...
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Strategic developments in collection storage
... Adobe conseille d’utiliser la version 8 (ou ultérieure) d’Adobe Reader ou d’Adobe Acrobat pour manipuler les documents contenus dans un lot PDF.. En effectuant une mise à niveau vers l[r] ...
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[Wilson's disease]
... 7 : Brewer GJ. Diagnosis of Wilson’s disease : an experience over three decades. Gut 2002 ; 50 : 136. 8. Ferenci P, Gilliam TC, Gitlin JD, Packman S, Schilsky ML, Sokol RJ, et al. An international symposium on ...
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Distribution and storage in networks
... network (i.e., the access part), and the main cost incurred by the ISP is to transfer these contents from the caches to the users. Thus, we can conclude that β greatly influences the performance in the network. To give ...
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Model-Driven Cloud Data Storage
... 14. Portilla, A., Hernández-Baruch, V., Vargas-Solar, G., Zechinelli-Martini, J., Collet, C.: Building reliable services based mashups. In: IV Jornadas Científico-Técnicas en Servicios WEB y SOA. JSWEB 2008 (2008) 15. ...
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