Article
Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene
2023-10-11
Abstract excerpt
<title>Abstract</title> <p>Hypophosphatasia (HPP) is a metabolic inborn error caused by mutations in the <italic>ALPL</italic> gene encoding tissue non-specific alkaline phosphatase (TNSALP) leading to a decreased alkaline phosphatase (ALP) activity. Although the main hallmark of this disease is bone involvement it presents great genetic and clinical variability, which is regarded as it a systemic disease. In the...
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Identifiers and source
- Literature Corpus work
- 3a49d99a-587a-5c36-a8ad-92f037a99adc
- DOI
- 10.21203/rs.3.rs-3410406/v1