TY  - GEN
AU  - Chan,Yiumo Michael
AU  - Lee,Paul
AU  - Jungles,Steve
AU  - Morris,Gabrielle
AU  - Cadaoas,Jaclyn
AU  - Skrinar,Alison
AU  - Vellard,Michel
AU  - Kakkis,Emil
TI  - Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model
SN  - 1932-6203
PY  - 2017///0825
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Animals
KW  - Biomarkers
KW  - Biopsy
KW  - Chromatography, Liquid
KW  - Disease Models, Animal
KW  - Distal Myopathies
KW  - blood
KW  - Female
KW  - Humans
KW  - Male
KW  - Mice
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - metabolism
KW  - N-Acetylneuraminic Acid
KW  - Tandem Mass Spectrometry
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1371/journal.pone.0173261
ER  -