Title: | What have we learned about glycogenosis in recent years? |
Journal : | Revue neurologique, 172, 10 |
Authors: | Laforet P, Author |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 541 |
Languages: | English |
Keywords : | clinical presentation ; diagnosis ; dietary supplements ; genetic mutations ; glycogen synthetase 1 related disease ; glycogenin 1-related disease ; glycogenosis type XIV ; GYG1 gene ; histochemistry ; inclusion body myopathy type 1 ; monosaccharides ; muscle glycogen storage disease ; RBCK1 gene |
Keywords: | GYG1;GYS1;Glycogen synthase;Glycogenin-1;Muscle glycogenosis;PGM1;Phosphoglucomutase;Polyglucosan body;RBCK1; |
Pubmed / DOI : | DOI : 10.1016/j.neurol.2016.08.001 / Pubmed : 27663060 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27663060 |