Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model. [electronic resource]
- PloS one 2017
- e0173261 p. digital
Publication Type: Journal Article
1932-6203
10.1371/journal.pone.0173261 doi
Adolescent Adult Aged Animals Biomarkers Biopsy Chromatography, Liquid Disease Models, Animal Distal Myopathies--blood Female Humans Male Mice Middle Aged Muscle, Skeletal--metabolism N-Acetylneuraminic Acid--blood Tandem Mass Spectrometry Young Adult