A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

• 主要な著者: Bülent Hacıhamdioğlu (著者), Gamze Özgürhan (著者), Catarina Pereira (著者), Emre Tepeli (著者), Gülşen Acar (著者), Serdar Cömert (著者)
• フォーマット: 図書
• 出版事項: Galenos Yayincilik, 2019-09-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa enzyme replacement treatme...