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Details of RareLSD ID D_1071

Primary information
Disease_ID	D_1071
Disease	Type 1 Santavuori–Haltia disease / infantile NCL
Category	Lipofucinosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)	3.0-9.3
M-6-P	na
Gene	PPT1
Type of Enzyme	cat enz