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Details of RareLSD ID D_1072

Primary information
Disease_ID	D_1072
Disease	Type 2 Jansky–Bielschowsky disease / late infantile NCL
Category	Lipofucinosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)	4.3-22.5
M-6-P	yes
Gene	TPP1
Type of Enzyme	na