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RF30 | PSAT137 Low Level of Alkaline Phosphatase as a Clue to Noncompliance in Patient with Hypophosphatasia
INTRODUCTION: Hypophosphatasia is rare, inherited metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene. This mutation leads to persistently low level of alkaline phosphatase (ALP) which is the hallmark of the hypophosphatasia but also elevated substrates mostly...
| 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/PMC9629222/ http://dx.doi.org/10.1210/jendso/bvac150.473 |