Welcome to Entry Card of Lysosomal Disorders


Details of RareLSD ID D_1091
Primary information
Disease_IDD_1091
DiseaseInfantile free sialic acid storage disease
CategoryLysosomal transport diseases
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)nr
M-6-Pna
GeneSLC17A5
Type of Enzymena