{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:27Z","timestamp":1774645767984,"version":"3.50.1"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,26]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Vitamin D resistant rickets (HVDRR), is a rare autosomal recessive disorder caused by vitamin D receptor (VDR<\/jats:italic>) gene mutations. There is no standard treatment in HVDRR.<\/jats:p>\n <\/jats:sec>\n \n Case report<\/jats:title>\n The patient was a 3-year-old girl presenting with short stature, genu varum deformity, waddling gait and alopecia. She had hypocalcemia, hypophosphatemia, hyperparathyroidism and normal 1.25-(OH)2<\/jats:sub>D levels. The patient was initially treated with calcitriol and high-dose oral calcium (Ca) for 22 months. The patient was treated with continuous high dose intravenous (i.v.) Ca therapy for 4 months, following initial lack of response to oral Ca and calsitriol. At the end of the 4 months, rickets was dramatically improved and did not recur for 3 years after i.v. Ca therapy. DNA sequence analyses of the VDR<\/jats:italic> gene showed a homozygous novel mutation.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n We identified a novel VDR<\/jats:italic> gene mutation, and we concluded that i.v. Ca therapy from the central catheter is a safe treatment in HVDRR.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2018-0399","type":"journal-article","created":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T09:03:03Z","timestamp":1559120583000},"page":"647-651","source":"Crossref","is-referenced-by-count":3,"title":["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"],"prefix":"10.1515","volume":"32","author":[{"given":"Elvan","family":"Bayramo\u011flu","sequence":"first","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara 06020 , Turkey , Phone: +90 03123056513, Fax: +90 03123170353"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u015eenay","family":"\u015eava\u015f Erdeve","sequence":"additional","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yufei","family":"Shi","sequence":"additional","affiliation":[{"name":"King Faisal Specialist Hospital and Research Centre , Department of Genetics , Riyadh , Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melik\u015fah","family":"Keskin","sequence":"additional","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Semra","family":"\u00c7etinkaya","sequence":"additional","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdal","family":"Kurnaz","sequence":"additional","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nursel","family":"Murato\u011flu \u015eahin","sequence":"additional","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Aycan","sequence":"additional","affiliation":[{"name":"Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital , Clinic of Pediatric Endocrinology , Alt\u0131nda\u011f\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,5,29]]},"reference":[{"key":"2023040101024179486_j_jpem-2018-0399_ref_001_w2aab3b7b5b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Chaturvedi D, Garabedian M, Carel JC, L\u00e9ger J. 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