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Details of RareLSD ID D_1068

Primary information
Disease_ID	D_1068
Disease	Type IX (Liver and muscle phosphorylase kinase deficiency)
Category	Glycogenosis
ENZYME LEVEL IN PATIENT (nmol/h/mg protein)	nr
M-6-P	na
Gene	PHKA2/PHKB/PHKG2/PHKA1
Type of Enzyme	na