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Enzyme replacement for severe hypophosphatasia

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Hypophosphatasia occurs in about 1 in 100000 births. It results from loss of function mutations in the gene for the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP). The disease manifests in many forms and degrees of severity, from the lethal perinatal form to dental disease in adult life. The perinatal and infantile forms are usually recessively inherited. Neonates …

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  • Provenance and peer review Commissioned; internally peer reviewed.