Welcome to Entry Card of Lysosomal Disorders

Details of RareLSD ID D_1013

Primary information
Disease_ID	D_1013
Disease	Niemann-Pick disease(type C1 / chronic neuronopathic formD)
Category	Mucolipidosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)	nr
M-6-P	no
Gene	NPC1
Type of Enzyme	TMP