Načítá se...
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...
Uloženo v:
| Vydáno v: | J Endocr Soc |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2020
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7209251/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2335 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|