Novel variants require established frameworks: emphasizing the role of ISTH diagnostic and classification guidelines in congenital fibrinogen disorders.

IF 2.7 3区 生物学
Mustafa Vakur Bor
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引用次数: 0

Abstract

This commentary aims to highlight the importance of applying the diagnostic and classification guidelines of the International Society on Thrombosis and Haemostasis (ISTH), along with standardized bleeding assessment tools, in the evaluation of patients with congenital fibrinogen disorders. Additionally, it addresses key laboratory methodologies relevant to the diagnosis of these conditions. We believe that this commentary will contribute meaningfully to the ongoing discussions and promote the adoption of standardized approaches in the assessment of rare congenital fibrinogen disorders.

新的变异需要建立框架:强调先天性纤维蛋白原疾病中ISTH诊断和分类指南的作用。
本评论旨在强调应用国际血栓形成和止血学会(ISTH)的诊断和分类指南以及标准化出血评估工具对先天性纤维蛋白原疾病患者进行评估的重要性。此外,它解决了与这些条件的诊断相关的关键实验室方法。我们相信这篇评论将对正在进行的讨论做出有意义的贡献,并促进在罕见的先天性纤维蛋白原疾病的评估中采用标准化方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Hereditas
Hereditas Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.80
自引率
3.70%
发文量
0
期刊介绍: For almost a century, Hereditas has published original cutting-edge research and reviews. As the Official journal of the Mendelian Society of Lund, the journal welcomes research from across all areas of genetics and genomics. Topics of interest include human and medical genetics, animal and plant genetics, microbial genetics, agriculture and bioinformatics.
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