Enzyme replacement for severe hypophosphatasia

doi:10.1136/archdischild-2012-302426

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> Volume 97, Issue 7
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Arch Dis Child

2012;97:666 doi:10.1136/archdischild-2012-302426

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Enzyme replacement for severe hypophosphatasia

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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