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glucosylceramidase (EC 3.2.1.45): Gaucher disease

phenylalanine hydroxylase : hyperphenylalaninemia

ornithine aminotransferase (gyrate atrophy)

caspase 8 (apoptosis-related cysteine protease)

coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)

hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)

biotinidase: biotin ´ë»çÁúȯ

calreticulin: innate immunity °ü·Ã

galactose-1-phosphate uridylytransferase: galactosemia

glucose 6-phosphatase: Von Gierke's disease