Title: | Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency |
Journal : | Molecular genetics and metabolism, 122, 3 |
Authors: | Preisler N, Author ; Cohen J ; Vissing CR ; Madsen KL ; Heinicke K ; Sharp LJ ; Phillips L ; Romain N ; Park SY ; Newby M ; Wyrick P ; Mancias P ; Galbo H ; Vissing J ; Haller RG |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 117 |
Languages: | English |
Keywords : | carbohydrate metabolism ; case studies ; gène PGM1 ; genetic mutations ; glycogen storage disease ; glycosylation ; muscle exercise ; muscle metabolism ; oxidative metabolism ; phosphoglucomutase 1 ; phosphoglucomutase 1 related disease ; skeletal muscle |
Keywords: | Exercise;Glycogen storage disease;Metabolic myopathy;Phosphoglucomutase type 1;Second wind;Skeletal muscle metabolism; |
Pubmed / DOI : | DOI : 10.1016/j.ymgme.2017.08.007 / Pubmed : 28882528 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28882528 |