Welcome to Entry Card of Lysosomal Disorders


Details of RareLSD ID D_1088
Primary information
Disease_IDD_1088
DiseaseCystinosis(Infantile nephropathic )
CategoryLysosomal transport diseases
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)nr
M-6-Pna
GeneCTNS
Type of Enzymetp