Диагностика тромботической тромбоцитопенической пурпуры - Журнал Терапевтический архив №12 Vario 2020
Диагностика тромботической тромбоцитопенической пурпуры
Галстян Г.М., Клебанова Е.Е. Диагностика тромботической тромбоцитопенической пурпуры. Терапевтический архив. 2020; 92 (12): 207–217. DOI: 10.26442/00403660.2020.12.200508
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Аннотация
Тромботическая тромбоцитопеническая пурпура (ТТП) – редкое угрожающее жизни заболевание, характеризующееся микроангиопатической гемолитической анемией, тромбоцитопенией потребления и органной дисфункцией. В основе патофизиологии ТТП лежит дефицит металлопротеиназы ADAMTS13, расщепляющей фактор фон Виллебранда. Предположительный диагноз ТТП устанавливают на основании выявления микроангиопатической гемолитической анемии, тромбоцитопении, поражения различных органов. Диагноз ТТП подтверждается обнаружением активности ADAMTS13 в плазме менее 10%. Образцы плазмы на исследование активности ADAMTS13 должны быть взяты до начала трансфузий плазмы либо плазмообмена. При выявлении низкой активности ADAMTS13 необходимо обследовать на наличие ингибитора ADAMTS13 иммуноферментным методом либо с помощью теста смешивания. Анти-ADAMTS13-антитела, относящиеся к иммуноглобулинам класса G, не всегда обладают ингибирующим действием. Ингибирующее действие анти-ADAMTS13-антител подтверждается в тесте смешивания. Впервые выявленные пациенты с ТТП должны быть обследованы на наличие мутаций гена ADAMTS13.
Ключевые слова: металлопротеиназа ADAMTS13, фактор фон Виллебранда, ингибитор, мутации гена ADAMTS13, тромботическая тромбоцитопеническая пурпура.
Keywords: metalloproteinase ADAMTS13, von Willebrand factor, inhibitor, mutations of the ADAMTS13 gene, Thrombotic thrombocytopenic purpura.
Ключевые слова: металлопротеиназа ADAMTS13, фактор фон Виллебранда, ингибитор, мутации гена ADAMTS13, тромботическая тромбоцитопеническая пурпура.
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Keywords: metalloproteinase ADAMTS13, von Willebrand factor, inhibitor, mutations of the ADAMTS13 gene, Thrombotic thrombocytopenic purpura.
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6. Ai J, Smith P, Wang S, et al. The Proximal Carboxyl-terminal Domains of ADAMTS13 Determine Substrate Specificity and Are All Required for Cleavage of von Willebrand Factor. J Biol Chem. 2005;280(33):29428-34. doi: 10.1074/jbc.M505513200
7. Roose E, Schelpe AS, Joly BS, et al. An open conformation of ADAMTS-13 is a hallmark of acute acquired thrombotic thrombocytopenic purpura. J Thromb Haemost. 2018;16(2):378-88. doi: 10.1111/jth.13922
8. Luken BM, Turenhout EAM, Hulstein JJJ, et al. The spacer domain of ADAMTS13 contains a major binding site for antibodies in patients with thrombotic thrombocytopenic purpura. Thromb Haemost. 2005;93(2):267-74. doi: 10.1160/TH04-05-0301
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15. Sánchez-Luceros A, Farías CE, Amaral MM, et al. von Willebrand factor-cleaving protease (ADAMTS13) activity in normal non-pregnant women, pregnant and post-delivery women. Thromb Haemost. 2004;92(6):1320-6. doi: 10.1160/TH03-11-0683
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17. Fakhouri F. Pregnancy-related thrombotic microangiopathies: Clues from complement biology. Transfus Apher Sci. 2016;54(2):199-202. doi: 10.1016/j.transci.2016.04.009
18. Moatti-Cohen M, Garrec C, Wolf M, et al. Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura. Blood. 2012;119(24):5888-97. doi: 10.1182/blood-2012-02-408914
19. Morgand M, Buffet M, Busson M, et al. High prevalence of infectious events in thrombotic thrombocytopenic purpura and genetic relationship with toll-like receptor 9 polymorphisms: Experience of the French Thrombotic Microangiopathies Reference Center. Transfusion. 2014;54(2):389-97. doi: 10.1111/trf.12263
20. Zhaoyue Wang, Ziqiang Yu, Jian Su, et al. Sepsis-induced disseminated intravascular coagulation with features of thrombotic thrombocytopenic purpura: A fatal fulminant syndrome. Clin App Thromb Hemost. 2011;17(3):251-3. doi: 10.1177/1076029609357739
21. Douglas KW, Pollock KGJ, Young D, et al. Infection frequently triggers thrombotic microangiopathy in patients with preexisting risk factors: A single-institution experience. J Clin Apher. 2010;25(2):47-53. doi: 10.1002/jca.20226
22. Page EE, Kremer Hovinga JA, Terrell DR, et al. Thrombotic thrombocytopenic purpura: Diagnostic criteria, clinical features, and long-term outcomes from 1995 through 2015. Blood Adv. 2017;1(10):590-600. doi: 10.1182/bloodadvances.2017005124
23. Mariotte E, Azoulay E, Galicier L, et al. Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): A cross-sectional analysis of the French national registry for thrombotic microangiopathy. Lancet Haematol. 2016;3(5):e237-45. doi: 10.1016/S2352-3026(16)30018-7
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26. Lotta LA, Wu HM, Mackie IJ, et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 2012;120(2):440-8. doi: 10.1182/blood-2012-01-403113
27. Roose E, Tersteeg C, Demeersseman R, et al. Anti-ADAMTS13 Antibodies and a Novel Heterozygous p.R1177Q Mutation in a Case of Pregnancy-Onset Immune-Mediated Thrombotic Thrombocytopenic Purpura. TH Open. 2018;02(01):e8-15. doi: 10.1055/s-0037-1615252
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29. Joly BS, Boisseau P, Roose E, et al. ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome. Thromb Haemost. 2018;118(11):1902-17. doi: 10.1055/s-0038-1673686
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32. Dai YL, Tang X, Chen HB, et al. Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene. Front Pediatr. 2020;8:1-5. doi: 10.3389/fped.2020.00554
33. Ling J, Ma Z, Liu L, et al. Identification of a crucial tryptophan residue in ADAMTS13 required for its secretion and enzymatic activity. Clin Exp Pharmacol Physiol. 2018;45(11):1181-6. doi: 10.1111/1440-1681.12996
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35. Amorosi EL, Ultman JE. Thrombotic thrombocytopenic purpura: report of 16 cases and review of the literature. Med. 1966;45(3):139-59
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37. Nambiar AM, Amalakuhan B. Diagnosis and management of thrombotic thrombocytopenic purpura. J Blood Disord Symptoms Treat. 2017;2(3):605-13. doi: 10.1007/978-3-319-43341-7_70
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39. Benhamou Y, Boelle PY, Baudin B, et al. Cardiac troponin-i on diagnosis predicts early death and refractoriness in acquired thrombotic thrombocytopenic purpura. experience of the french thrombotic microangiopathies reference center. J Thromb Haemost. 2015;13(2):293-302. doi: 10.1111/jth.12790
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14. Van Dorland HA, Taleghani MM, Sakai K, et al. The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: Key findings at enrollment until 2017. Haematologica. 2019;104(10):2107-15. doi: 10.3324/haematol.2019.216796
15. Sánchez-Luceros A, Farías CE, Amaral MM, et al. von Willebrand factor-cleaving protease (ADAMTS13) activity in normal non-pregnant women, pregnant and post-delivery women. Thromb Haemost. 2004;92(6):1320-6. doi: 10.1160/TH03-11-0683
16. Момот А.П., Молчанова И.В., Батрак Т.А. и др. Референтные значения показателей системы гемостаза при физиологически протекающей беременности и после родоразрешения. Проблемы репродукции. 2015;21(1):89-97 [Momot AP, Molchanova IV, Batrak TA, et al. Reference values of hemostatic system parameters in normal pregnancy and after delivery. Problemi reproductcii. 2015;21(1):89-97 (In Russ.)]. doi: 10.17116/repro20152189-97
17. Fakhouri F. Pregnancy-related thrombotic microangiopathies: Clues from complement biology. Transfus Apher Sci. 2016;54(2):199-202. doi: 10.1016/j.transci.2016.04.009
18. Moatti-Cohen M, Garrec C, Wolf M, et al. Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura. Blood. 2012;119(24):5888-97. doi: 10.1182/blood-2012-02-408914
19. Morgand M, Buffet M, Busson M, et al. High prevalence of infectious events in thrombotic thrombocytopenic purpura and genetic relationship with toll-like receptor 9 polymorphisms: Experience of the French Thrombotic Microangiopathies Reference Center. Transfusion. 2014;54(2):389-97. doi: 10.1111/trf.12263
20. Zhaoyue Wang, Ziqiang Yu, Jian Su, et al. Sepsis-induced disseminated intravascular coagulation with features of thrombotic thrombocytopenic purpura: A fatal fulminant syndrome. Clin App Thromb Hemost. 2011;17(3):251-3. doi: 10.1177/1076029609357739
21. Douglas KW, Pollock KGJ, Young D, et al. Infection frequently triggers thrombotic microangiopathy in patients with preexisting risk factors: A single-institution experience. J Clin Apher. 2010;25(2):47-53. doi: 10.1002/jca.20226
22. Page EE, Kremer Hovinga JA, Terrell DR, et al. Thrombotic thrombocytopenic purpura: Diagnostic criteria, clinical features, and long-term outcomes from 1995 through 2015. Blood Adv. 2017;1(10):590-600. doi: 10.1182/bloodadvances.2017005124
23. Mariotte E, Azoulay E, Galicier L, et al. Epidemiology and pathophysiology of adulthood-onset thrombotic microangiopathy with severe ADAMTS13 deficiency (thrombotic thrombocytopenic purpura): A cross-sectional analysis of the French national registry for thrombotic microangiopathy. Lancet Haematol. 2016;3(5):e237-45. doi: 10.1016/S2352-3026(16)30018-7
24. Blombery P, Kivivali L, Pepperell D, et al. Diagnosis and management of thrombotic thrombocytopenic purpura (TTP) in Australia: Findings from the first 5 years of the Australian TTP/thrombotic microangiopathy registry. Int Med J. 2016;46(1):71-9. doi: 10.1111/imj.12935
25. Fujimura Y, Matsumoto M, Isonishi A, et al. Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan. J Thromb Haemost. 2011;9(1S):283-301. doi: 10.1111/j.1538-7836.2011.04341.x
26. Lotta LA, Wu HM, Mackie IJ, et al. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 2012;120(2):440-8. doi: 10.1182/blood-2012-01-403113
27. Roose E, Tersteeg C, Demeersseman R, et al. Anti-ADAMTS13 Antibodies and a Novel Heterozygous p.R1177Q Mutation in a Case of Pregnancy-Onset Immune-Mediated Thrombotic Thrombocytopenic Purpura. TH Open. 2018;02(01):e8-15. doi: 10.1055/s-0037-1615252
28. Von Krogh AS, Quist-Paulsen P, Waage A, et al. High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: From clinical observation to evidence. J Thromb Haemost. 2016;14(1):73-82. doi:10.1111/jth.13186
29. Joly BS, Boisseau P, Roose E, et al. ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome. Thromb Haemost. 2018;118(11):1902-17. doi: 10.1055/s-0038-1673686
30. Camilleri RS, Cohen H, Mackie IJ, et al. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. J Thromb Haemost. 2008;6(2):331-8. doi: 10.1111/j.1538-7836.2008.02846.x
31. Plaimauer B, Fuhrmann J, Mohr G, et al. Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation. Blood. 2006;107(1):118-25. doi: 10.1182/blood-2005-06-2482
32. Dai YL, Tang X, Chen HB, et al. Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene. Front Pediatr. 2020;8:1-5. doi: 10.3389/fped.2020.00554
33. Ling J, Ma Z, Liu L, et al. Identification of a crucial tryptophan residue in ADAMTS13 required for its secretion and enzymatic activity. Clin Exp Pharmacol Physiol. 2018;45(11):1181-6. doi: 10.1111/1440-1681.12996
34. George JN. Forecasting the future for patients with hereditary TTP. Blood. 2012;120(2):243-4. doi: 10.1182/blood-2012-05-427419
35. Amorosi EL, Ultman JE. Thrombotic thrombocytopenic purpura: report of 16 cases and review of the literature. Med. 1966;45(3):139-59
36. Chiasakul T, Cuker A. Clinical and laboratory diagnosis of TTP: An integrated approach. Hematol Am Soc Hematol Educ Program. 2018;2018(1):530-8. doi: 10.1182/asheducation-2018.1.530
37. Nambiar AM, Amalakuhan B. Diagnosis and management of thrombotic thrombocytopenic purpura. J Blood Disord Symptoms Treat. 2017;2(3):605-13. doi: 10.1007/978-3-319-43341-7_70
38. Azoulay E, Bauer PR, Mariotte E, et al. Expert statement on the ICU management of patients with thrombotic thrombocytopenic purpura. Intensive Care Med. 2019;45(11):1518-39. doi: 10.1007/s00134-019-05736-5
39. Benhamou Y, Boelle PY, Baudin B, et al. Cardiac troponin-i on diagnosis predicts early death and refractoriness in acquired thrombotic thrombocytopenic purpura. experience of the french thrombotic microangiopathies reference center. J Thromb Haemost. 2015;13(2):293-302. doi: 10.1111/jth.12790
40. Meloni G, Proia A, Antonini G, et al. Thrombotic thrombocytopenic purpura: prospective neurologic, neuroimaging and neurophysiologic evaluation. Haematologica. 2001;86(11):1194-9.
41. Burrus TM, Wijdicks EFM, Rabinstein AA. Brain lesions are most often reversible in acute thrombotic thrombocytopenic purpura. Neurology. 2009;73(1):66-70. doi: 10.1212/WNL.0b013e3181aaea1b
42. Alwan F, Vendramin C, Vanhoorelbeke K, et al. Presenting ADAMTS13 antibody and antigen levels predict prognosis in immune-mediated thrombotic thrombocytopenic purpura. Blood. 2017;130(4):466-71. doi: 10.1182/blood-2016-12-758656
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44. Wahla AS, Ruiz J, Noureddine N, et al. Myocardial infarction in thrombotic thrombocytopenic purpura: A single-center experience and literature review. Eur J Haematol. 2008;81(4):311-6. doi: 10.1111/j.1600-0609.2008.01112.x
45. Griffn D, Al-Nouri Z, Muthurajah D, et al. First symptoms in patients with thrombotic thrombocytopenic purpura (TTP): what are they and when do they occur? Transfusion. 2013;53(1):235-7. doi: 10.1111/j.1537-2995.2012.03934.x
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47. Fox LC, Cohney SJ, Kausman JY, et al. Consensus opinion on diagnosis and management of thrombotic microangiopathy in Australia and New Zealand. Int Med J. 2018;48(6):624-36. doi: 10.1111/imj.13804
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42. Alwan F, Vendramin C, Vanhoorelbeke K, et al. Presenting ADAMTS13 antibody and antigen levels predict prognosis in immune-mediated thrombotic thrombocytopenic purpura. Blood. 2017;130(4):466-71. doi: 10.1182/blood-2016-12-758656
43. Zafrani L, Mariotte E, Darmon M, et al. Acute renal failure is prevalent in patients with thrombotic thrombocytopenic purpura associated with low plasma ADAMTS13 activity. J Thromb Haemost. 2015;13(3):380-9. doi: 10.1111/jth.12826
44. Wahla AS, Ruiz J, Noureddine N, et al. Myocardial infarction in thrombotic thrombocytopenic purpura: A single-center experience and literature review. Eur J Haematol. 2008;81(4):311-6. doi: 10.1111/j.1600-0609.2008.01112.x
45. Griffn D, Al-Nouri Z, Muthurajah D, et al. First symptoms in patients with thrombotic thrombocytopenic purpura (TTP): what are they and when do they occur? Transfusion. 2013;53(1):235-7. doi: 10.1111/j.1537-2995.2012.03934.x
46. Muñiz AE, Barbee RW. Thrombotic thrombocytopenic purpura (TTP) presenting as pancreatitis. J Emerg Med. 2003;24(4):407-11. doi: 10.1016/S0736-4679(03)00038-6
47. Fox LC, Cohney SJ, Kausman JY, et al. Consensus opinion on diagnosis and management of thrombotic microangiopathy in Australia and New Zealand. Int Med J. 2018;48(6):624-36. doi: 10.1111/imj.13804
48. Scully M, Cataland S, Coppo P, et al. Consensus on the standardization of terminology in thrombotic thrombocytopenic purpura and related thrombotic microangiopathies. J Thromb Haemost. 2017;15(2):312-22. doi: 10.1111/jth.13571
49. Scully M, Hunt BJ, Benjamin S, et al. Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies. Br J Haematol. 2012;158(3):323-35. doi: 10.1111/j.1365-2141.2012.09167.x
50. Aksay E, Kiyan S, Ersel M, et al. Thrombotic thrombocytopenic purpura mimicking acute ischemic stroke. Emerg Med J. 2006;23(9):2-3. doi: 10.1136/emj.2006.036327
51. [Filatov LB, Tomilov AF, Alekseeva TA. Hemolytic anemia caused by red blood cells fragmentation. Klin. onkohematologiya. 2011;4(4):346-55 (In Russ)].
52. Burns ER, Lou Y, Pathak A. Morphologic Diagnosis of Thrombotic Thrombocytopenic Purpura. Am J Hematol. 2004;75(1):18-21. doi: 10.1002/ajh.10450
53. Zini G, D’Onofrio G, Briggs C, et al. ICSH recommendations for identification, diagnostic value, and quantitation of schistocytes. Int J Lab Hematol. 2012;34(2):107-16. doi: 10.1111/j.1751-553X.2011.01380.x
54. Uderzo CC, Jodele S, Eli Missiry M, et al. Transplant-Associated Thrombotic Microangiopathy (TA-TMA) and Consensus Based Diagnostic and Therapeutic Recommendations: Which TA-TMA Patients to Treat and When? J Bone Marrow Res. 2014;2(3):10000152. doi: 10.4172/2329-8820.1000152
55. Joly BS, Coppo P, Veyradier A. An update on pathogenesis and diagnosis of thrombotic thrombocytopenic purpura. Expert Rev Hematol. 2019;12(6):383-95. doi: 10.1080/17474086.2019.1611423
56. Coppo P, Schwarzinger M, Buffet M, et al. Predictive features of severe acquired ADAMTS13 deficiency in idiopathic thrombotic microangiopathies: The French TMA reference center experience. PLoS One. 2010;5(4). doi: 10.1371/journal.pone.0010208
57. Bendapudi PK, Hurwitz S, Fry A, et al. Derivation and external validation of the PLASMIC score for rapid assessment of adults with thrombotic microangiopathies: a cohort study. Lancet Haematol. 2017;4(4):e157-64. doi: 10.1016/S2352-3026(17)30026-1
58. Matsumoto M, Fujimura Y, Wada H, et al. Diagnostic and treatment guidelines for thrombotic thrombocytopenic purpura (TTP) 2017 in Japan. Int J Hematol. 2017;106(1):3-15. doi: 10.1007/s12185-017-2264-7
59. Just S. Methodologies and clinical utility of ADAMTS-13 activity testing. Semin Thromb Hemost. 2010;36(1):82-90. doi: 10.1055/s-0030-1248727
60. Rock G, Yousef H, Neurath D, et al. ADAMTS-13 levels in fresh, stored, and solvent detergent treated plasma. Transfus Apher Sci. 2006;35(3):235-8. doi: 10.1016/j.transci.2006.08.006
61. Furlan M, Robles R, Lammle B, et al. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood. 1996;87(10):4223-34. doi: 10.1182/blood.v87.10.4223.bloodjournal87104223
62. Tsai HM, Lian EC. Antibodies to von Willebrand factor- cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med. 1998;339(22):1585-94. doi: 10.1056/NEJM199811263392203
63. Gerritsen HE, Turecek PL, Schwarz HP, et al. Assay of von Willebrand factor (vWF)-cleaving protease based on decreased collagen binding affinity of degraded vWF: a tool for the diagnosis of thrombotic thrombocytopenic purpura (TTP). Thromb Haemost. 1999;82(5):1386-9.
64. Bohm M, Vigh T, Scharrer I. Evaluation and clinical application of a new method for measuring activity of von Willebrand factor-cleaving metalloprotease (ADAMTS13). Ann Hematol. 2002;81(8):430-5. doi: 10.1007/s00277-002-0502-3
65. Kokame K, Nobe Y, Kokubo Y, et al. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay. Brit J Haematol. 2005;129(1):93-100. doi: 10.1111/j.1365-2141.2005.05420.x
66. Miyata T, Kokame K, Banno F. Measurement of ADAMTS13 activity and inhibitors. Curr Opin Hematol. 2005;12(5):384-9. doi: 10.1097/01.moh.0000169286.74464.3a
67. Crist RA, Rodgers GM. A comparison of two commercial adamts13 activity ASSAYS with a reference laboratory method. Lab Med. 2009;40(4):232-5. doi: 10.1309/LM95OQN0GLZPYHBP
68. Valsecchi C, Mirabet M, Mancini I, et al. Evaluation of a New, Rapid, Fully Automated Assay for the Measurement of ADAMTS13 Activity. Thromb Haemost. 2019;119(11):1767-72. doi: 10.1055/s-0039-1696718
69. Vetr H, Binder N. Novel antibody for determination of ADAMTS-13 activity. Austria; US2019/0369095A1, 2019; p. 1-10.
70. Moore GW, Meijer D, Griffiths M, et al. A multi-center evaluation of TECHNOSCREEN® ADAMTS-13 activity assay as a screening tool for detecting deficiency of ADAMTS-13. J Thromb Haemost. 2020;18(7):1686-94. doi: 10.1111/jth.14815
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Авторы
Г.М. Галстян, Е.Е. Клебанова
ФГБУ «Национальный медицинский исследовательский центр гематологии» Минздрава России, Москва, Россия
National Research Center for Hematology, Moscow, Russia
ФГБУ «Национальный медицинский исследовательский центр гематологии» Минздрава России, Москва, Россия
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National Research Center for Hematology, Moscow, Russia
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