International Journal of Genetics and Genomics

Volume 13, Issue 1, March 2025

  • Review Article

    Challenges and Advances in Diagnosing and Treating Hypophosphatasia in Adults: A Comprehensive Review

    Sandeep Bolla*

    Issue: Volume 13, Issue 1, March 2025
    Pages: 1-9
    Received: 10 December 2024
    Accepted: 3 January 2025
    Published: 22 January 2025
    DOI: 10.11648/j.ijgg.20251301.11
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    Abstract: Hypophosphatasia (HPP), a rare metabolic disorder caused by mutations in the ALPL gene, leads to deficient alkaline phosphatase activity and presents unique clinical challenges for adult patients, including fractures, chronic pain, and dental issues. This disorder is often underdiagnosed due to its variable clinical presentation and overlap with ot... Show More