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SUN-LB64 Urine Phosphoethanolamine Is an Underutilized Biomarker for Hypophosphastasia
Hypophosphatasia (HPP) is a rare disease caused by a loss-of-function mutation in the ALPL gene leading to a deficiency in the tissue-non-specific isoenzyme alkaline phosphatase (ALP) and excess of extracellular inorganic pyrophosphate (PPi) and pyridoxal 5’phosphate (PLP). Patients with HPP have a...
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| Publicat a: | J Endocr Soc |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7209251/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2335 |
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