Article

A Japanese single-center experience of the efficacy and safety of enzyme replacement therapy in childhood-onset hypophosphatasia

2021-08-03

Abstract excerpt

<title>Abstract</title> <p>BackgroundHypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific alkaline phosphatase. The phenotype of HPP is widely diverse from the perinatal severe form to the adult mild form. The former represents the most severe form and was earlier associated with high mortality due to impaired development of the lungs...

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Literature Corpus work: a459b573-8233-5466-a0e6-036ddfa81cdc
DOI: 10.21203/rs.3.rs-718059/v1

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