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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Bibliografiska uppgifter
I publikationen:J Endocr Soc
Huvudupphovsmän: Shajani-Yi, Zahra, Ayala-Lopex, Nadia, Black, Margo, Dahir, Kathryn McCrystal
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2020
Ämnen:
Bone and Mineral Metabolism
Länkar: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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