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Article

Enzyme replacement therapy for hypophosphatasia—The current paradigm

14 Jul 2024

Abstract excerpt

Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant-negative mutations in the gene that encodes TNSALP. The phenotype of HPP is very broad including abnormal bone mineralization, disturbances of calcium and phosphate...

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PMID: 39004952
DOI: 10.1111/cen.15063

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