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Abnormal Regulation of Renal 25-Hydroxyvitamin D-1α-Hydroxylase Activity in X-Linked Hypophosphatemia: A Translational or Post-Translational Defect

✍ Scribed by Ikuma Fujiwara; Rolands Aravindan; Ron L Horst; Marc K Drezner

Book ID: 111487277
Publisher: American Society for Bone and Mineral Research
Year: 2003
Tongue: English
Weight: 426 KB
Volume: 18
Category: Article
ISSN: 0884-0431
DOI: 10.1359/jbmr.2003.18.3.434

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✍ Y. Seino; K. Satomura; K. Yamaoka; Y. Tanaka; H. Tanaka; T. Yamamoto; M. Ishida; 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 435 KB

In 1974, a 2-year-old boy was diagnosed as having X-linked hypophosphataemic rickets (XLH) because of severe rickets and hypophosphataemia. The vitamin D metabolite concentrations, blood and urine chemistry and renal 25-hydroxyvitamin D3 (25OHD3)-1 alpha-hydroxylase were measured in 1982 (about 2 we