Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 differen...

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Bibliografiske detaljer
Udgivet i:J Inherit Metab Dis
Main Authors: Chesher, Douglas, Oddy, Michael, Darbar, Ulpee, Sayal, Parag, Casey, Adrian, Ryan, Aidan, Sechi, Annalisa, Simister, Charlotte, Waters, Aoife, Wedatilake, Yehani, Lachmann, Robin H., Murphy, Elaine
Format: Artigo
Sprog:Inglês
Udgivet: Springer Netherlands 2018
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6133187/
https://ncbi.nlm.nih.gov/pubmed/29460029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-018-0147-6
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