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

• Principais autores: Bülent Hacıhamdioğlu (Autor), Gamze Özgürhan (Autor), Catarina Pereira (Autor), Emre Tepeli (Autor), Gülşen Acar (Autor), Serdar Cömert (Autor)
• Formato: Livro
• Publicado em: Galenos Yayincilik, 2019-09-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...