Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia - Cinque, Luigia; Pugliese, Flavia; Salcuni, Antonio Stefano; Trombetta, Domenico; Battista, Claudia; Biagini, Tommaso; Augello, Bartolomeo; Nardella, Grazia; Conti, Francesco; Corbetta, Sabrina; Fischetto, Rita; Foiadelli, Thomas; et al. (Frontiers in endocrinology (Lausanne), 2023)
Keywords: alkaline phosphatase; ALPL; dominant negative effect; Endocrinology; genetics; hypophosphatasia; vitamin B6