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Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2009, Volume 361, Issue 4, pp. 425 - 427
Journal Article
Neurology, ISSN 0028-3878, 2008, Volume 71, Issue 23, pp. S12 - 36
Journal Article
Journal Article
Journal Article
Revue Neurologique, ISSN 0035-3787, 10/2016, Volume 172, Issue 10, pp. 541 - 545
The field of glycogenosis has been greatly expanded over the past few years with the discovery of new metabolic diseases that have allowed new metabolic... 
GYS1 | Glycogenin-1 | Glycogen synthase | Polyglucosan body | Muscle glycogenosis | RBCK1 | GYG1 | PGM1 | Phosphoglucomutase | MRI | POLYGLUCOSAN BODY MYOPATHY | MUSCLE | CLINICAL NEUROLOGY | Glycogen Storage Disease - pathology | Muscle, Skeletal - pathology | Glycogen Storage Disease - genetics | Glycogen Storage Disease - therapy | Humans
Journal Article
FRONTIERS IN NEUROLOGY, ISSN 1664-2295, 02/2019, Volume 10, p. 77
Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK)... 
PHOSPHOFRUCTOKINASE | muscle MRI | cyclosporine miodarone | GSD VII | PFK deficiency | glycogenosis VII | IDENTIFICATION | SIMVASTATIN | NEUROSCIENCES | CLINICAL NEUROLOGY | Muscle diseases | Genetic aspects | Dosage and administration | Amiodarone | Glycogenosis | Cyclosporine | cyclosporine | amiodarone
Journal Article
FEBS Letters, ISSN 0014-5793, 02/2012, Volume 586, Issue 3, pp. 254 - 257
Journal Article
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 10/2018, Volume 6, Issue 1, pp. 116 - 20
Pompe disease, which is due to acid alpha-glucosidase deficiency, is characterized by skeletal muscle dysfunction attributed to the accumulation of... 
Pompe disease | Splitting | Lysosome | GAA KO 6neo/6neo mice | Satellite cell | Muscle regeneration | Skeletal muscle | Glycogen overload | DNA DELETION MUTATIONS | LYSOSOMAL STORAGE DISEASE | MOTOR FUNCTION DEFICITS | MUSCULAR-DYSTROPHY | AUTOPHAGY | NEUROSCIENCES | SKELETAL-MUSCLE | ALGLUCOSIDASE ALPHA | MOUSE MODEL | ACID ALPHA-GLUCOSIDASE | GAA KO 6(neo)/6(neo) mice | ENZYME REPLACEMENT THERAPY | Age Factors | Cardiotoxins - toxicity | Microtubule-Associated Proteins - metabolism | Humans | Ki-67 Antigen - metabolism | Male | Muscle, Skeletal - injuries | Glycogen Storage Disease Type II - pathology | Glycogen - metabolism | Lysosomes - metabolism | Regeneration - genetics | Muscle, Skeletal - drug effects | Satellite Cells, Skeletal Muscle - physiology | Lysosomes - pathology | Autophagy - genetics | Dystrophin - metabolism | Disease Models, Animal | Glucan 1,4-alpha-Glucosidase - genetics | Gene Expression Regulation - genetics | Mice, Inbred C57BL | Mice, Transgenic | Regeneration - physiology | Glucan 1,4-alpha-Glucosidase - deficiency | Glycogen Storage Disease Type II - etiology | Collagen - metabolism | Animals | Muscle, Skeletal - physiopathology | Mice | Laminin - metabolism | Longitudinal Studies | Care and treatment | Genetic aspects | Glycogenosis | Research | Gene expression | Musculoskeletal system | Enzymes | Acids | Biopsy | Mitochondrial DNA | Mutation | Autophagy | Defects
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2009, Volume 5, Issue 8, p. e1000615
Journal Article