Browsing by Subject "MUTATION"

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Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route

Abali, Saygin; Tamura, Mayuko; Turan, Serap; Atay, Zeynep; Isguven, Pinar; Guran, Tulay; Haliloglu, Belma; Bas, Serpil; Isojima, Tsuyoshi; Kitanaka, Sachiko; Bereket, Abdullah (WALTER DE GRUYTER GMBH, 2020)

Background: Hereditary vitamin D-resistant rickets (HVDRR) is caused by vitamin D receptor (VDR) defects. Patients with HVDRR do not respond to standard doses of calcitriol and oral calcium (Ca) treatment and need to be ...