Glycogen storage disease type I
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 ...
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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 ...
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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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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
... 8 I.2"Les"trois"tissus"glucoformateurs" + に な".̋"̨æÆ̋" Le foie est généralement considéré comme étant le principal organe producteur de glucose. La production hépatique de glucose ...
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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 ...
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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 ...
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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
... fasting-induced hypoglycemia. Mice were injected with 1 mg/kg mRNAs intravenously, and fasting was initiated 72 hr after injection. In previous studies, L-G6PC / mice became hypoglycemic after 6 hr of fasting, with blood ...
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Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease
... USA Glycogen storage disease type Ia (GSD Ia) is caused by muta- tions in the glucose-6-phosphatase (G6Pase) catalytic subunit gene ( ...
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2020 — Modélisation de la performance à la fissuration des chaussées réhabilitées par les techniques de retraitement type I et type II
... place type II C’est une intervention double qui consiste en premier temps à décohésionner l’enrobé sur toute son épaisseur en y incorporant une partie de la fondation ...
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Completeness characterization of Type-I box splines
... to type-I box splines of any polynomial degree with no restriction on the symmetry of their ...for type-I triangulations, spline functions and the directional ...of type-I box ...
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Reinsulation Tests on Alfol Type I Insulated Walls
... In the first series of tests, an attempt was made to evaluate the effect of hose length and rate of feed on the density and vertical variation in density of two types of fill insulation,[r] ...
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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
... Parkinson’s disease heritability remains incompletely ex- plained by the genes and variants identified to date (Hamza and Paymi, 2010; Do et ...of disease include epigenetic changes due to shared ...
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Relationships between type I and type II chondrules: Implications on chondrule formation processes
... either type I (mg# > 0.9) or type II (mg# < ...that type II chondrules formed in more oxidizing conditions than type ...heating type I olivine-rich (A) chondrule ...
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Stability of Jackson-type queueing networks, I
... L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignemen[r] ...
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Évaluation de la stabilité de l'ostéotomie de type LeFort I multisegmentaire
... montant de constriction postchirurgicale n’a été constatée entre ces deux groupes. Une récidive au niveau des premières molaires a été constatée chez trois quarts des patients, alors qu'au niveau des premières ...
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Beyond PrP9res) type 1/type 2 dichotomy in Creutzfeldt-Jakob disease.
... Creutzfeldt-Jakob Disease Surveillance Unit, Division of Pathology, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom, 7 INSERM, Equipe Avenir, Maladies a` Prions chez l’Homme, Paris, ...
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Automatic Glycemia Regulation of Type I Diabetes
... glucose production. The two main forms of Diabetes mellitus are the insulin-independent or Type II (T2DM)and insulin-dependent Type I (T1DM) diabetes. In the early stage of T2DM, the impaired first- ...
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Proprotein convertase subtilisin/kexin type 9 in human disease
... BMP type-I receptors, are characterized by ectopic bone formation in muscles and soft-tissues that are mediated by cells of vascular origin (Hegyi et al ...
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Chronic kidney disease. Part I: epidemiology, pathophysiology, complications
... • Extrapolate current rate of decline: will pts need RRT in their life time?.. Extrapolate current rate of decline: will pt need RRT in their life time[r] ...
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Le récepteur de la ryanodine de type I - Un canal sous surveillance redox…
... La sortie du Ca 2+ du RS, nécessaire à l’étape suivante d’activation des unités contractiles, se fait grâce à un canal calcique exprimé au niveau de la mem- brane du RS, le récepteur de la ryanodine de type ...
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