Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.
Patryk Lipiński, Joanna Rusecka, Zbigniew Michał Żuber, Robert Stanisław Śmigiel
Published: 202610.17219/acem/205341
Abstract
Hypophosphatasia (HPP) is an inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene encoding a tissue-nonspecific alkaline phosphatase (TNSALP). It has been classified based on age at first disease manifestation, including…
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