4-MU |
4-methylumbelliferone |
DMF |
digital microfluidics |
DMF-F |
digital microfluidics fluorescence |
NBS |
newborn screening |
LSD |
lysosomal storage disorder |
GAG |
glycosaminoglycan |
DBS |
dried blood spot |
MPS |
mucopolysaccharidosis |
IDUA |
α-iduronidase |
IDS |
α-iduronide sulfatase |
SGSH |
N-sulfoglucosamine sulfohydrolase |
NAGLU |
acetyl α-glucosaminidase |
HGSNAT |
α-glucosaminide N-acetyl transferase |
GNS |
N-acetyl glucosamine -6-sulfatase |
GALNS |
N-acetyl galactosamine -6-sulfatase |
GUSB |
β-glucuronidase |
β-gal |
β-galactosidase |
GLB1 |
β-glucuronidase |
ARSB |
N-acetyl galactosamine 4-sulfatase |
ARSA |
arylsulfatase A |
Ido |
iduronate |
CS |
chondroitin sulfate |
DS |
dermatan sulfate |
HS |
heparan sulfate |
KS |
keratin sulfate |
MS/MS |
tandem mass spectrometry |
LC–MS/MS |
liquid chromatography–tandem mass spectrometry |