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

• Main Authors: Bülent Hacıhamdioğlu (Author), Gamze Özgürhan (Author), Catarina Pereira (Author), Emre Tepeli (Author), Gülşen Acar (Author), Serdar Cömert (Author)
• Format: Book
• Published: Galenos Yayincilik, 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: 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...