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MON-497 Adult Onset Hypophosphatasia: Before and After Treatment with Asfotase Alfa
Hypophosphatasia is a rare inherited bone disease resulting from mutations in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP), an enzyme predominant in skeleton, liver, kidney and teeth. Diminished TNSALP activity causes accumulation of substrates that inhibit bone mineralization...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550981/ http://dx.doi.org/10.1210/js.2019-MON-497 |