佝偻病

Alizadeh Naderi AS, Reilly RF. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010 Nov;6(11):657-65. 摘要

ACOG Committee on Obstetric Practice. ACOG Committee Opinion no. 495: vitamin D: screening and supplementation during pregnancy. Obstet Gynecol. 2011 Jul;118(1):197-8.全文  摘要

Wagner CL, Greer FR. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents. Pediatrics. 2008 Nov;122(5):1142-52.全文  摘要

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6. Alizadeh Naderi AS, Reilly RF. Hereditary disorders of renal phosphate wasting. Nat Rev Nephrol. 2010 Nov;6(11):657-65. 摘要

7. Beck-Nielsen SS, Brusgaard K, Rasmussen LM, et al. Phenotype presentation of hypophosphatemic rickets in adults. Calcif Tissue Int. 2010 Aug;87(2):108-19. 摘要

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16. Bandeira F, Griz L, Dreyer P, et al. Vitamin D deficiency: a global perspective. Arq Bras Endocrinol Metabol. 2006 Aug;50(4):640-6.全文  摘要

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19. ACOG Committee on Obstetric Practice. ACOG Committee Opinion no. 495: vitamin D: screening and supplementation during pregnancy. Obstet Gynecol. 2011 Jul;118(1):197-8.全文  摘要

20. Tan ML, Abrams SA, Osborn DA. Vitamin D supplementation for term breastfed infants to prevent vitamin D deficiency and improve bone health. Cochrane Database Syst Rev. 2020 Dec 11;12:CD013046.全文  摘要

21. Wagner CL, Greer FR. Prevention of rickets and vitamin D deficiency in infants, children, and adolescents. Pediatrics. 2008 Nov;122(5):1142-52.全文  摘要

22. Ross AC, Manson JE, Abrams SA, et al. The 2011 report on dietary reference intakes for calcium and vitamin D from the Institute of Medicine: what clinicians need to know. J Clin Endocrinol Metab. 2011 Jan;96(1):53-8. 摘要

23. Palacios C. The role of nutrients in bone health, from A to Z. Crit Rev Food Sci Nutr. 2006;46(8):621-8. 摘要

24. Dobrescu MO, Garcia AC, Robert M. Rickets. CMAJ. 2006 Jun 6;174(12):1710.全文  摘要

25. Payne RB. Renal tubular reabsorption of phosphate (TmP/GFR): indications and interpretation. Ann Clin Biochem. 1998 Mar;35(Pt 2):201-6. 摘要

26. Carpenter TO, Imel EA, Holm IA, et al. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011 Jul;26(7):1381-8. [Erratum in: J Bone Miner Res. 2015 Feb;30(2):394.]全文  摘要

27. Drezner MK. Osteomalacia and rickets. In: Goldman L, Ausiello D, eds. Cecil textbook of medicine, 22nd ed. Philadelphia, PA: Saunders Publishing; 2004:1555-62.

28. Munns CF, Shaw N, Kiely M, et al. Global consensus recommendations on prevention and management of nutritional rickets. J Clin Endocrinol Metab. 2016 Feb;101(2):394-415.全文  摘要

29. Andary R, El-Hage-Sleiman AK, Farhat T, et al. Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):437-44. 摘要

30. Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019 Jul;15(7):435-55.全文  摘要

31. Imel EA, Glorieux FH, Whyte MP, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet. 2019 Jun 15;393(10189):2416-27. 摘要

32. Carpenter TO, Imel EA, Ruppe MD, et al. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest. 2014 Apr;124(4):1587-97.全文  摘要

33. Zhang X, Imel EA, Ruppe MD, et al. Pharmacokinetics and pharmacodynamics of a human monoclonal anti-FGF23 antibody (KRN23) in the first multiple ascending-dose trial treating adults with X-linked hypophosphatemia. J Clin Pharmacol. 2016 Feb;56(2):176-85.全文  摘要

34. Imel EA, Zhang X, Ruppe MD, et al. Prolonged correction of serum phosphorus in adults with X-linked hypophosphatemia using monthly doses of KRN23. J Clin Endocrinol Metab. 2015 Jul;100(7):2565-73.全文  摘要

35. Florenzano P, Gafni RI, Collins MT. Tumor-induced osteomalacia. Bone Rep. 2017 Dec;7:90-97.全文  摘要

36. Rothenbuhler A, Esterle L, Gueorguieva I, et al. Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). Growth Horm IGF Res. 2017 Oct;36:11-15. 摘要

37. Živičnjak M, Schnabel D, Staude H, et al. Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion. J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105.全文  摘要

38. Meyerhoff N, Haffner D, Staude H, et al. Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. Pediatr Nephrol. 2018 Mar;33(3):447-56. 摘要

39. Liu ES, Carpenter TO, Gundberg CM, et al. Calcitonin administration in X-linked hypophosphatemia. N Engl J Med. 2011 Apr 28;364(17):1678-80. 摘要

40. Sullivan R, Abraham A, Simpson C, et al. Three-month randomized clinical trial of nasal calcitonin in adults with X-linked hypophosphatemia. Calcif Tissue Int. 2018 Jun;102(6):666-70. 摘要

41. Carpenter TO, Olear EA, Zhang JH, et al. Effect of paricalcitol on circulating parathyroid hormone in X-linked hypophosphatemia: a randomized, double-blind, placebo-controlled study. J Clin Endocrinol Metab. 2014 Sep;99(9):3103-11. 摘要

42. Holick MF, Binkley NC, Bischoff-Ferrari HA, et al. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2011 Jul;96(7):1911-30.全文  摘要

43. Oginni LM, Sharp CA, Badru OS, et al. Radiological and biochemical resolution of nutritional rickets with calcium. Arch Dis Child. 2003 Sep;88(9):812-7. 摘要

44. Malloy PJ, Hochberg Z, Tiosano D, et al. The molecular basis of hereditary 1, 25-dihydroxyvitamin D3 resistant rickets in seven related families. J Clin Invest. 1990 Dec;86(6):2071-9.全文  摘要

45. Mäkitie O, Doria A, Kooh SW, et al. Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 2003 Aug;88(8):3591-7.全文  摘要

46. de Menezes Filho H, de Castro LC, Damiani D. Hypophosphatemic rickets and osteomalacia. Arg Bras Endocrinol Metabol. 2006 Aug;50(4):802-13. 摘要

47. Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997 Feb;82(2):674-81.全文  摘要