Список литературы
1. Rockman-Greenberg C. Hypophosphatasia. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388.
2. Fraser D. Hypophosphatasia. Am J Med. 1957;22(5):730-746.
3. Whyte MP. Hypophosphatasia: nature’s window on alkaline phosphatase function in humans. In: Bilezikian JP, Raisz LG, Martin TJ, eds. Principles of Bone Biology. Vol 1. 3rd ed. San Diego, CA: Academic Press; 2008:1573-1598.
4. Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 4. 8th ed. New York, NY: McGraw-Hill; 2001:5313-5329.
5. Greenberg CR, Taylor CLD, Haworth JC, et al. A homoallelic Gly317→ Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics. 1993;17(1):215-217.
6. Whyte MP, Leung E, Wilcox W, et al. for Study 011-10 Investigators. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at: 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, Canada.
7. Chodirker BN, Evans JA, Seargeant LE, Cheang MS, Greenberg CR. Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. Am J Hum Genet. 1990;46(2):280-285.
8. Eade AWT, Swannell AJ, Williamson N. Pyrophosphate arthropathy in hypophosphatasia. Ann Rheum Dis. 1981;40(2):164-170.
9. Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyte MP. Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine. 1984;63(1):12-24.
10. Barvencik F, Beil FT, Gebauer M, et al. Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis. Osteoporos Int. 2011;22(10):2667-2675.
11. Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr. 2011;100(7):e43-e46.
12. Cundy T, Michigami T, Tachikawa K, Dray M, Collins J. Phenotypic change in a patient with hypophosphatasia with the onset of renal failure. Paper presented at: 40th Annual Congress of the European Calcified Tissue Society (ECTS); May 18-21, 2013; Lisbon, Portugal.
13. Chuck AJ, Pattrick MG, Hamilton E, Wilson R, Doherty M. Crystal deposition in hypophosphatasia: a reappraisal. Ann Rheum Dis.1989;48(7):571-576.
14. Berkseth KE, Tebben PJ, Drake MT, Hefferan TE, Jewison DE, Wermers RA. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone. 2013;54(1):21-27.
15. Beck C, Morbach H, Wirth C, Beer M, Girschick HJ. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int. 2011;31(10):1315-1320.
16. Whyte MP. Hypophosphatasia: nature’s window on alkaline phosphatase function in humans. In: Bilezikian JP, Raisz LG, Martin TJ, eds. Principles of Bone Biology. Vol 1. 3rd ed. San Diego, CA: Academic Press; 2008:1573-1598.
17. Anderson HC, Hsu HH, Morris DC, Fedde KN, Whyte MP. Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol. 1997;151(6):1555-1561.
18. Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 4. 8th ed. New York, NY: McGraw-Hill; 2001:5313-5329.
19. Plecko B, Stöckler B. Vitamin B6 dependent seizures. Can J Neurol Sci. 2009;36(2):S73-S77.
20. Silver MM, Vilos GA. Pulmonary hypoplasia in neonatal hypophosphatasia. Pediatr Pathol. 1988;8(5):483-493.
21. Teber S, Sezer T, Kafaki M, et al. Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency. Indian J Pediatr. 2008;75(2):186-188.
22. Mohn A, De Leonibus C, de Giorgis T, Mornet E, Chiarelli F. Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. Acta Paediatr. 2011;100(7):e43-e46.
23. Higgins Victoria, Chan Man Khun, Niewesteeg Michelle, Hoffman Barry R., Bromberg Irvin L., Gornall Doug, Randell Edward, Adeli Khosrow, Transference of CALIPER Pediatric Reference Intervals to Biochemical Assays on the Roche cobas 6000 and the Roche Modular P, Clinical Biochemistry (2015).
24. Инструкция к набору реагентов для измерения уровня активности ЩФ Roche Cobas Alkaline Phosphatase acc. to IFCC Gen.2
25. Mornet E. Metabolism. 2018;82:142-155.
26. Bishop N, et al. Arch Dis Child. 2016;101(6):514-515.
27. Orimo H. J Nippon Med Sch. 2010;77(1):4-12.
28. Whyte MP, et al. Bone. 2017;102:15-25.
29. Bianchi ML. Osteoporos Int. 2015;26(12):2743-2757
30. Mornet E, Nunes ME. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2018. Updated February 4, 2016. Accessed February 14, 2018.
31. Whyte MP. In: Bilezikian JP, et al, eds. Principles of Bone Biology. Vol 2. 3rd ed. San Diego, CA: Academic Press; 2008:1573-1598.
32. Whyte MP, et al. Bone. 2016;93:125-138.
33. Reibel A, et al. Orphanet J Rare Dis. 2009;4:6.
34. Whyte MP, et al. Am J Med. 1982;72(4):631-641.
35. Foster BL, et al. J Dent Res. 2014;93(7):7S-19S.
36. Watanabe H, et al. J Periodontol. 1993;64(3):174-180.
37. Whyte MP, et al. N Engl J Med. 2012;366(10):904-913.
38. Coe JD, et al. Bone Joint Surg Am. 1986;68(7):981-990
39. 17. Gagnon C, et al. J Clin Endocrinol Metab. 2010;95(3):1007-1012.
40. Schalin-Jäntti C, et al. J Clin Endocrinol Metab. 2010;95(12):5174-5179.
41. Mohn A, et al. Acta Paediatr. 2011;100(7):e43-e46.
42. Whyte MP. London, UK: Academic Press; 2013:337-360.
43. Eade AWT. Ann Rheum Dis. 1981;40(2):164-170.
44. Whyte MP, et al. Clin Endocrinol Metab. 2013;98(12):4606-461
45. Weber TJ, et al. Poster presented at: International Conference on Children’s
Bone Health; June 22-25, 2015; Rotterdam, Netherlands
46. Mori M, et al. Bone Rep. 2016;5:228-232.
47. Seshia SS, et al. Arch Dis Child. 1990;65(1):130-131.
48. Weber TJ, et al. Metabolism. 2016;65(10):1522-1530.
49. Whyte MP, et al. LB-OR01-4. Endocrine Society’s 97th Annual Meeting and Expo website. https://endo.confex.com/endo/2015endo/webprogram/
Paper22822.html. Accessed February 14, 2018.
50. Mornet E, Nunes ME. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993-2018. Updated February 4, 2016. Accessed February 14, 2018
51. McKiernan FE, et al. Osteoporos Int. 2017;28(8):2343-2348.
52. Drake MT, et al. Mayo Clin Proc. 2008;83(9): 1032-1045.
53. Sutton R, et al. J Bone Miner Res. 2012;27(5):987-994.
54. Cundy T, et al. J Bone Miner Res. 2015;30(9):1726-1737.
55. Whyte MP, et al. J Clin Endocrinol Metab. 2007;92(4):1203-1208.
56. Laroche M. Calcif Tissue Int. 2012;90(3):250.
57. Shapiro JR, Lewiecki EM. J Bone Miner Res. 2017;32:1977-1980.
58. Talotta R, et al. Clin Exp Rheumatol. 2017;35(suppl 102):s6-s12.