Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

Bayramoglu, Elvan; Erdeve, Senay; Shi, Yufei; Keskin, Meliksah; Cetinkaya, Semra; Kurnaz, Erdal; Sahin, Nursel; AYCAN, ZEHRA

doi:10.1515/jpem-2018-0399

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

Bayramoglu E., Erdeve S. S., Shi Y., Keskin M., Cetinkaya S., Kurnaz E., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.32, sa.6, ss.647-651, 2019 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 32 Sayı: 6
Basım Tarihi: 2019
Doi Numarası: 10.1515/jpem-2018-0399
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.647-651
Anahtar Kelimeler: hereditary vitamin D resistant rickets, i.v. calcium treatment, vitamin D receptor mutation
Ankara Üniversitesi Adresli: Evet

Özet

Background: Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR) gene mutations. There is no standard treatment in HVDRR.