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    Article

    Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family

    Hypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited in either an autosomal recessive or autosomal dominant manner. It is characte...

    Masaru Kato, Toshimi Michigami, Kanako Tachikawa in Journal of Bone and Mineral Metabolism (2021)

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    Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report

    Hypophosphatasia (HPP) is caused by mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene in an autosomal recessive or dominant manner and characterized by defective mineralization of bone and...

    Masaru Kato, Toshiyuki Hattori, Tomohiro Shimizu in Journal of Bone and Mineral Metabolism (2020)

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    Article

    Incidence and risk of antiresorptive agent-related osteonecrosis of the jaw (ARONJ) after tooth extraction in patients with autoimmune disease

    Antiresorptive agent-related osteonecrosis of the jaw (ARONJ) is a rare but serious complication in patients receiving antiresorprtive agents (AR). However, the incidence of ARONJ after tooth extraction in pat...

    Yuichiro Fujieda, Mototsugu Doi, Takuya Asaka in Journal of Bone and Mineral Metabolism (2020)