Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort
Mots clés
ACN
Acetonitrile
BAB
Butyl-4-aminobenzoate
CRIM
Cross Immune Reactive Material
del ex 18
c.2481+102\₂646+31 del
ERT
Enzyme Replacement Therapy
Glc4
Glcα1-6Glcα1-4Glcα1-4Glc
tetraglucose
GSD
Glycogen Storage Disease
GVUS
Genetic Variant of Unknown Significance
IOPD
Infantile-Onset Pompe disease
IS
Internal Standard
LOD
Limit of Detection
LOPD
Late-Onset Pompe disease
LOQ
Limit of Quantification
NaBH3CN
Sodium Cyanoborohydride
PD
Pompe Disease
QC
Quality Control
SPE
Solid Phase Extraction
Domaines
Sciences du Vivant [q-bio]
Origine : Accord explicite pour ce dépôt
Licence : CC BY NC ND - Paternité - Pas d'utilisation commerciale - Pas de modification
Licence : CC BY NC ND - Paternité - Pas d'utilisation commerciale - Pas de modification