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Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.

作者信息

Collado Anna, Boaro Maria Paola, van der Veen Sigrid, Idrizovic Amira, Biemond Bart J, Beneitez Pastor David, Ortuño Ana, Cela Elena, Ruiz-Llobet Anna, Bartolucci Pablo, de Montalembert Marianne, Castellani Gastone, Biondi Riccardo, Manara Renzo, Sanavia Tiziana, Fariselli Piero, Kountouris Petros, Kleanthous Marina, Alvarez Federico, Zazo Santiago, Colombatti Raffaella, van Beers Eduard J, Mañú-Pereira María Del Mar

机构信息

Service of Pediatric Hematology, Hospital Universitari Vall d'Hebrón, ERN-EuroBloodNet member, Barcelona, Spain.

Rare Anemia Disorders Research Laboratory, Cancer and Blood Disorders in Children, Vall d'Hebrón Institut de Recerca, Barcelona, Spain.

出版信息

Hemasphere. 2023 Feb 22;7(3):e844. doi: 10.1097/HS9.0000000000000844. eCollection 2023 Mar.

DOI:10.1097/HS9.0000000000000844
PMID:36844183
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9949761/
Abstract
摘要

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本文引用的文献

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Limited access to transcranial Doppler screening and stroke prevention for children with sickle cell disease in Europe: Results of a multinational EuroBloodNet survey.欧洲镰状细胞病患儿经颅多普勒筛查和卒中预防机会有限:一项多国 EuroBloodNet 调查结果。
Pediatr Blood Cancer. 2024 Oct;71(10):e31190. doi: 10.1002/pbc.31190. Epub 2024 Jul 10.
2
Precision Medicine and Sickle Cell Disease.精准医学与镰状细胞病
Hemasphere. 2022 Aug 18;6(9):e762. doi: 10.1097/HS9.0000000000000762. eCollection 2022 Sep.
3
Metabolomic and molecular insights into sickle cell disease and innovative therapies.代谢组学和分子生物学对镰状细胞病和创新疗法的研究进展
Blood Adv. 2019 Apr 23;3(8):1347-1355. doi: 10.1182/bloodadvances.2018030619.
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Genotype imputation performance of three reference panels using African ancestry individuals.三种参考面板在非洲血统个体中的基因型推断性能。
Hum Genet. 2018 Apr;137(4):281-292. doi: 10.1007/s00439-018-1881-4. Epub 2018 Apr 10.