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ODP057 The Unusual Case of Hypercortisolism in a Patient with Juvenile Onset Hypophosphatasia
Juvenile onset hypophosphatasia is a rare, genetic disease that is caused by inactivating mutations in the ALPL gene which encodes tissue non-specific alkaline phosphatase (TNSALP). This leads to decreased activity of the TNSALP enzyme in target tissues and accumulation of TNSALP substrates, includi...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700283/ http://dx.doi.org/10.1210/jendso/bvac150.136 |