Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 32162014.
- Also identified by DOI 10.1007/s00198-020-05345-9.
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Abstract
This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).
Medical subject headings
- Hypophosphatasia