Ontology highlight
ABSTRACT:
SUBMITTER: S?klar Z
PROVIDER: S-EPMC7291408 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Şıklar Zeynep Z Turan Serap S Bereket Abdullah A Baş Firdevs F Güran Tülay T Akberzade Azad A Abacı Ayhan A Demir Korcan K Böber Ece E Özbek Mehmet Nuri MN Kara Cengiz C Poyrazoğlu Şükran Ş Aydın Murat M Kardelen Aslı A Tarım Ömer Ö Eren Erdal E Hatipoğlu Nihal N Büyükinan Muammer M Akyürek Nesibe N Çetinkaya Semra S Bayramoğlu Elvan E Selver Eklioğlu Beray B Uçaktürk Ahmet A Abalı Saygın S Gökşen Damla D Kor Yılmaz Y Ünal Edip E Esen İhsan İ Yıldırım Ruken R Akın Onur O Çayır Atilla A Dilek Emine E Kırel Birgül B Anık Ahmet A Çatlı Gönül G Berberoğlu Merih M
Journal of clinical research in pediatric endocrinology 20190913 2
<h4>Objective</h4>Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options.<h4>Methods</h4>Here we present nationwide initial and follow-up data on HR.<h4>Results</h4>From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed <i>PHEX</i> mutation in 80% of patients. The mean follow-up period was 6.7± ...[more]