Glanzmann thrombasthenia [PDF]
, 2006 Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation.
Alan T Nurden
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Fibrinogen concentrate for treatment of bleeding and surgical prophylaxis in congenital fibrinogen deficiency patients [PDF]
, 2020 Background: Congenital fibrinogen deficiency is an ultra-rare disorder in which patients can experience severe and/or frequent bleeding episodes (BEs). Here, we present the largest prospective study to date on the treatment of this disorder.
A. Almomen +16 more
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The H-ATOMIC Criteria for the Etiologic Classification of Patients with Intracerebral Hemorrhage [PDF]
, 2016 Background and Purpose There are no generally accepted criteria for the etiologic classification of intracerebral hemorrhage (ICH). For this reason, we have developed a set of etiologic criteria and have applied them to a large number of patients to ...
Arias-Rivas, Susana +11 more
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Efficacy and safety of fibrinogen concentrate for perioperative prophylaxis of bleeding in adult, adolescent, and pediatric patients with congenital fibrinogen deficiency: FORMA‐02 and FORMA‐04 clinical trials [PDF]
, 2022 Background: Congenital fibrinogen deficiency (CFD) is a rare coagulation disorder placing patients at increased bleeding risk. Human fibrinogen concentrate (HFC) represents current standard of care for fibrinogen replacement in CFD, however, limited data
Khayat, Claudia Djambas +5 more
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Acta Médica Portuguesa, 1998 The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha +7 more
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Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case
Research and Practice in Thrombosis and Haemostasis, 2021 Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a ...
Megan Langer +5 more
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New insights into the expression and role of platelet FXIII-A [PDF]
, 2009 25 p.-6 fig.Background: The A subunit of factor XIII (FXIII-A) functions as an intracellular transglutaminase (TG) in the megakaryocyte/platelet lineage, where it probably participates in the cytoskeletal remodeling associated with cell activation ...
Conde, Isabel +4 more
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Molecular analysis of afibrinogenemic mutations caused by a homozygous FGA1238 bp deletion, and a compound heterozygous FGA1238 bp deletion and novel FGA c.54+3A > C substitution [PDF]
, 2012 We identified two afibrinogenemic girls in two Japanese families and performed molecular analysis to clarify the mechanisms of fibrinogen defects. Genetic analyses were performed by PCR amplification of the fibrinogen gene and DNA sequence analysis.
Fujiwara, Mitsuhiro +7 more
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In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A > G causing abnormal RNA splicing [PDF]
, 2010 ArticleClinica Chimica Acta.
Fujihara, N +7 more
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Congenital structural and functional fibrinogen disorders : a primer for internists [PDF]
, 2019 Congenital qualitative and quantitative fibrinogen disorders represent heterogeneous rare abnormalities caused by mutations in one of the 3 genes encoding individual fibrinogen polypeptide chains, located on chromosome 4q28.
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