Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.

Chan, Yiumo Michael

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