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The Prevalence and Burden of Hypophosphatasia in an Ambulatory Endocrinology Practice
Introduction: Hypophosphatasia (HPP) is an autosomal disease resulting from loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The presentation and severity of the disease is highly variable ranging from perinatal-onset HPP with mortality rates as...
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| Pubblicato in: | J Endocr Soc |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8090367/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.546 |
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