Konjenital Kemik İliği Yetmezlikleri
Özet
Referanslar
Kim HY, Kim HJ, Kim SH. Genetics and genomics of bone marrow failure syndrome. Blood Res. 2022;57(S1):86-92.
Furlong E, Carter T. Aplastic anaemia: Current concepts in diagnosis and management. J Paediatr Child Health. 2020;56(7):1023-1028.
Adrianna Vlachos, Michelle Nash and Jeffrey M. Lipton. Bone Marrow Failure. In: Fish, Jonathan D., Jeffrey M. Lipton, and Philip Lanzkowsky, eds. Lanzkowsky's Manual of Pediatric Hematology and Oncology. Academic Press, 2021:102-122.
KARKI, Shovana. Inherited bone marrow failure syndromes. An overview. Journal of Pathology of Nepal, 2021; 11(1): 1873-1880.
Park M. Overview of inherited bone marrow failure syndromes. Blood Res. 2022;57(S1):49-54.
West AH, Churpek JE. Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2017;2017(1):79-87.
Çocuklarda Kemik İliği Yetersizliği: Kemik İliği Yetersizlikleri Tanı ve Tedavi Kılavuzu 2021. Türk Hematoloji Derneği, 65-86.
Da Costa L, Leblanc T, Mohandas N. Diamond-Blackfan anemia. Blood. 2020;136(11):1262-1273.
Gambale A, Iolascon A, Andolfo I, Russo R. Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol. 2016;9(3):283-296.
Bezzerri V, Cipolli M. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives. Mol Diagn Ther. 2019;23(2):281-290.
Fadeel B, Garwicz D, Carlsson G, Sandstedt B, Nordenskjöld M. Kostmann disease and other forms of severe congenital neutropenia. Acta Paediatr. 2021;110(11):2912-2920.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032.
Hoenig M, Pannicke U, Gaspar HB, Schwarz K. Recent advances in understanding the pathogenesis and management of reticular dysgenesis. Br J Haematol. 2018;180(5):644-653.
Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. 2011;37(6):707-712.
Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep. 2021;15(3):74.
AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges. 2020;18(9):943-967.
Germeshausen M, Ballmaier M. Congenital amegakaryocytic thrombocytopenia - Not a single disease. Best Pract Res Clin Haematol. 2021;34(2):101286.
Referanslar
Kim HY, Kim HJ, Kim SH. Genetics and genomics of bone marrow failure syndrome. Blood Res. 2022;57(S1):86-92.
Furlong E, Carter T. Aplastic anaemia: Current concepts in diagnosis and management. J Paediatr Child Health. 2020;56(7):1023-1028.
Adrianna Vlachos, Michelle Nash and Jeffrey M. Lipton. Bone Marrow Failure. In: Fish, Jonathan D., Jeffrey M. Lipton, and Philip Lanzkowsky, eds. Lanzkowsky's Manual of Pediatric Hematology and Oncology. Academic Press, 2021:102-122.
KARKI, Shovana. Inherited bone marrow failure syndromes. An overview. Journal of Pathology of Nepal, 2021; 11(1): 1873-1880.
Park M. Overview of inherited bone marrow failure syndromes. Blood Res. 2022;57(S1):49-54.
West AH, Churpek JE. Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program. 2017;2017(1):79-87.
Çocuklarda Kemik İliği Yetersizliği: Kemik İliği Yetersizlikleri Tanı ve Tedavi Kılavuzu 2021. Türk Hematoloji Derneği, 65-86.
Da Costa L, Leblanc T, Mohandas N. Diamond-Blackfan anemia. Blood. 2020;136(11):1262-1273.
Gambale A, Iolascon A, Andolfo I, Russo R. Diagnosis and management of congenital dyserythropoietic anemias. Expert Rev Hematol. 2016;9(3):283-296.
Bezzerri V, Cipolli M. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives. Mol Diagn Ther. 2019;23(2):281-290.
Fadeel B, Garwicz D, Carlsson G, Sandstedt B, Nordenskjöld M. Kostmann disease and other forms of severe congenital neutropenia. Acta Paediatr. 2021;110(11):2912-2920.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032.
Hoenig M, Pannicke U, Gaspar HB, Schwarz K. Recent advances in understanding the pathogenesis and management of reticular dysgenesis. Br J Haematol. 2018;180(5):644-653.
Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. 2011;37(6):707-712.
Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed Rep. 2021;15(3):74.
AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges. 2020;18(9):943-967.
Germeshausen M, Ballmaier M. Congenital amegakaryocytic thrombocytopenia - Not a single disease. Best Pract Res Clin Haematol. 2021;34(2):101286.
