X-linked hypophosphatemic rickets: a new mutation
Author:
Affiliation:
1. Hospital do Espírito Santo de Évora, Portugal
2. Centro Hospitalar e Universitário de Lisboa Central, Portugal
3. Hospital de Santarém, Portugal
4. Hospital de Vila Franca de Xira, Portugal
Abstract
Publisher
FapUNIFESP (SciELO)
Subject
General Medicine
Link
http://www.scielo.br/pdf/jbn/2020nahead/2175-8239-jbn-2020-0027.pdf
Reference17 articles.
1. Overview of rickets in children;Carpenter T,2020
2. Genetic causes of rickets;Acar S;J Clin Res Pediatr Endocrinol,2017
3. Novel PHEX gene mutation associated with X linked hypophosphatemic rickets;Chandran M;Nephron Physiol,2010
4. X-linked hypophosphataemia: a homologous disorder in humans and mice;Tenenhouse HS;Nephrol Dial Transplant,1999
5. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark;Beck-Nielsen SS;Eur J Endocrinol,2009
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults;Genes;2022-12-27
2. Calcitriol/phosphorus;Reactions Weekly;2022-02
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