Zobrazeno 1 - 10
of 211
pro vyhledávání: '"Diamond Blackfan anaemia"'
Autor:
D. Matthew Gianferante, Kyra J. W. Mendez, Sarah Cole, Shahinaz M. Gadalla, Blanche P. Alter, Sharon A. Savage, Neelam Giri
Publikováno v:
eJHaem, Vol 5, Iss 6, Pp 1117-1124 (2024)
Abstract Introduction Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribo
Externí odkaz:
https://doaj.org/article/a8b131f0020e4ef29933fd188a57e955
Autor:
Jonathan R. A. deWilde, Birgit vanDooijeweert, Annelies J. vanVuren, Elise J. Huisman, Frans J. Smiers, Arian vander Veer, Richard vanWijk, Wouter W. vanSolinge, Edward E. S. Nieuwenhuis, Eduard J. vanBeers, Marije Bartels
Publikováno v:
eJHaem, Vol 3, Iss 4, Pp 1300-1304 (2022)
Abstract In Diamond‐Blackfan anaemia (DBA), iron overload (IO) is common in transfusion‐dependent patients, yet has also been reported in non‐transfusion‐dependent patients. We explored the incidence of IO in transfusion‐dependent and non
Externí odkaz:
https://doaj.org/article/a0c5ad6edef541d88a40c32d271f45fa
Autor:
Akie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, Junichi Hara, Hideki Muramatsu, Rika Kanezaki, Yuka Takahashi, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Taro Yoshida, Taiju Utsugisawa, Hitoshi Kanno, Kenichi Yoshida, Yasuhito Nannya, Yoshiyuki Takahashi, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Kiminori Terui, Etsuro Ito
Publikováno v:
eJHaem, Vol 3, Iss 1, Pp 163-167 (2022)
Abstract Diamond‐Blackfan anaemia (DBA) shares clinical features with two recently reported sporadic cases of dyserythropoietic anaemia with a cryptic GATA1 splicing mutation (c.871‐24 C>T). We hypothesized that some patients clinically diagnosed
Externí odkaz:
https://doaj.org/article/ab23682fb6af434fa7f986a01af0fcf7
Autor:
Roberto Valli, Marianna Penzo
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/264a66ac70b64cb5b2fcf2b00e6c0894
Publikováno v:
International Journal of Scientific Research in Dental and Medical Sciences, Vol 3, Iss 2, Pp 101-104 (2021)
Diamond Blackfan anaemia (DBA) is a rare cause of anaemia in children. To the best of our knowledge, these are the first cases reported in Nigeria. Two toddlers with a history of recurrent anaemia, which started within the first three months of life.
Externí odkaz:
https://doaj.org/article/87a9ab2373be468d9c2393193fca9c03
Autor:
Guilherme Rossi Assis-Mendonça, Marlone Cunha-Silva, Mariana Franson Fernandes, Luiza Dias Torres, Monica Pinheiro de Almeida Verissimo, Marcelo Trevisan Neves Okano, Daniel Ferraz Mazo, Cristina Alba Lalli, Tiago Sevá-Pereira, Rafael Fantelli Stelini, Larissa Bastos Eloy da Costa
Publikováno v:
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Genetic anaemias lead us to reflect on the classic ‘trolley dilemma’, when there are two choices but neither one is satisfactory. Either we do not treat anaemia and the patient suffers from chronic tiredness and fatigue, or we
Externí odkaz:
https://doaj.org/article/21c25bd7be9746819b2beebc8f2d4889
Akademický článek
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Publikováno v:
European Medical Journal, Vol 2, Iss 3, Pp 105-112 (2017)
The purpose of this review is to provide the haematologist with a working knowledge of the common inherited bone marrow failure syndromes (iBMFS) diagnosed in early childhood to young adulthood. Although these disorders are heterogeneous, this articl
Externí odkaz:
https://doaj.org/article/3be120e64dfd4de59384542af6ce4319
Autor:
Caligara, Cinzia a, b, Santamaría-López, Esther a, b, ⁎, Hernáez, María José a, b, Ortiz-Vallecillo, Ana b, Ruíz, Myriam a, b, Prados, Nicolás b, c, d, Gonzalez-Ravina, Cristina b, c, d, Fernández-Sánchez, Manuel a, b, c, e
Publikováno v:
In Reproductive BioMedicine Online December 2023 47(6)
Autor:
Gandhi, Shreyans, Abuarqoub, Hadil, Kordasti, Shahram, Jiang, Jie, Kulasekararaj, Austin, Mufti, Ghulam, Marsh, Judith C.W.
Publikováno v:
In Diagnostic Histopathology May 2015 21(5):174-180