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Autor:
Fatma F. Mohamed, Michael B. Chavez, Shannon Huggins, Joshua Bertels, Alyssa Falck, Larry J. Suva, Brian L. Foster, Dana Gaddy
Publikováno v:
Journal of Bone and Mineral Research. 37:2005-2017
Hypophosphatasia (HPP) is the inherited error-of-metabolism caused by mutations in ALPL, reducing the function of tissue-nonspecific alkaline phosphatase (TNAP/TNALP/TNSALP). HPP is characterized by defective skeletal and dental mineralization and is