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MON-494 Infantile Hypophosphatasia Diagnosed in Adulthood: A Case Report
Background: Hypophosphatasia (HPP) is a result of loss of function mutations within ALPL gene that encodes for the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). It is characterized by low serum alkaline phosphatase (ALP) activity. To date, HPP was recognized in 500-600 individuals i...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550627/ http://dx.doi.org/10.1210/js.2019-MON-494 |