Misdiagnosis of a patient with congenital dysfibrinogenemia: A case report and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24624
Abstract: We reported a patient with congenital dysfibrinogenemia who was misdiagnosed and reviewed relevant literature, in order to discuss the methods to reduce misdiagnosis. read more here.
Keywords: literature; patient congenital; congenital dysfibrinogenemia; misdiagnosis ... See more keywords
Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia
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DOI: 10.1007/s12185-020-02842-9
Abstract: Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but… read more here.
Keywords: comparison clinical; clinical phenotype; congenital dysfibrinogenemia; laboratory ... See more keywords
Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region.
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DOI: 10.1080/16078454.2021.1893977
Abstract: BACKGROUND : Congenital dysfibrinogenemia (CD) is a coagulation disorder caused by mutations in the fibrinogen genes, which result in abnormal fibrinogen function. However, the precise pathogenesis underlying it remains unclear. METHODS : In this study,… read more here.
Keywords: fibrinogen; caused ala327val; congenital dysfibrinogenemia; ala327val mutation ... See more keywords