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The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, pp. 2246 - 2255
Journal Article
Scientific Reports, ISSN 2045-2322, 10/2016, Volume 6, Issue 1, p. 33927
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Current Opinion in Clinical Nutrition and Metabolic Care, ISSN 1363-1950, 07/2015, Volume 18, Issue 4, pp. 415 - 421
PURPOSE OF REVIEWGlycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses... 
Glycogen storage disease | Hypoglycemia | Complications | Liver | Metabolic control | Outcome | DIAGNOSIS | metabolic control | complications | liver | DISEASE TYPE-III | NATURAL-HISTORY | DEFICIENCY | PATHOGENESIS | NUTRITION & DIETETICS | THERAPY | GENE | hypoglycemia | ENDOCRINOLOGY & METABOLISM | glycogen storage disease | outcome | Dietary Proteins - administration & dosage | Glycogen Storage Disease Type III - physiopathology | Humans | Liver - physiopathology | Glycogen Storage Disease Type I - complications | Glycogen Storage Disease Type VI - diet therapy | Cardiomyopathies - physiopathology | Glycogen - metabolism | Diet, High-Fat | Glycogen Storage Disease Type III - complications | Dietary Fats - administration & dosage | Liver Cirrhosis - diet therapy | Diet, Carbohydrate-Restricted | Disease Models, Animal | Dietary Carbohydrates - administration & dosage | Glycogen Storage Disease Type I - physiopathology | Cardiomyopathies - diet therapy | Glycogen Storage Disease Type III - diagnosis | Glycogen Storage Disease Type VI - complications | Liver Cirrhosis - complications | Glycogen Storage Disease Type VI - diagnosis | Glycogen Storage Disease Type I - diet therapy | Glycogen Storage Disease Type I - diagnosis | Glycogen Storage Disease Type VI - physiopathology | Animals | Cardiomyopathies - complications | Liver Cirrhosis - physiopathology | Glycogen Storage Disease Type III - diet therapy
Journal Article
Molecular & Cellular Proteomics, ISSN 1535-9476, 12/2007, Volume 6, Issue 12, pp. 2132 - 2138
Congenital disorders of glycosylation (CDGs) are a family of N -linked glycosylation defects associated with severe clinical manifestations. In CDG type-I,... 
DIAGNOSIS | MUTATION | DISEASE | CDG | BIOCHEMICAL RESEARCH METHODS | CONGENITAL DISORDERS | IDENTIFICATION | PROTEINS | MOLECULAR-BASIS | DEFICIENCY
Journal Article
Human Mutation, ISSN 1059-7794, 06/2015, Volume 36, Issue 6, pp. 611 - 621
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2017, Volume 40, Issue 2, pp. 297 - 306
Journal Article