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About 155 results

ALLMedicine™ Afibrinogenemia Center

Research & Reviews  60 results

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrino...
https://doi.org/10.3324/haematol.2021.278945
Haematologica Guipponi M, Masclaux F et. al.

Jul 2nd, 2021 - Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterised by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and m...

Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.
https://doi.org/10.1097/MBC.0000000000001041
Blood Coagulation & Fibrinolysis : an International Journ... Nojehdeh ST, Mojbafan M et. al.

Apr 27th, 2021 - Congenital afibrinogenemia is a rare autosomal recessive disorder that is caused by defects in the fibrinogen. Fibrinogen is a hexameric glycoprotein made of two pairs of three homologous polypeptide chains including Aα, Bβ, and γ that are encoded...

Clinical phenotype, fibrinogen supplementation and health-related quality of life in pa...
https://doi.org/10.1182/blood.2020009472
Blood Casini A, von Mackensen S et. al.

Jan 30th, 2021 - Due to its low prevalence, epidemiologic data on afibrinogenemia are limited and none are available on health-related quality of life (HRQoL). We conducted a cross-sectional international study to characterize the clinical features, the fibrinogen...

Pharmacokinetics, surrogate efficacy and safety evaluations of a new human plasma-deriv...
https://doi.org/10.1016/j.thromres.2020.12.026
Thrombosis Research; Ross CR, Subramanian S et. al.

Jan 25th, 2021 - Congenital afibrinogenemia is a rare coagulation disorder resulting from a deficiency in fibrinogen. This study assessed the pharmacokinetics, surrogate efficacy and safety of FIB Grifols, a new human plasma-derived fibrinogen concentrate, to trea...

Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences...
https://doi.org/10.1016/j.blre.2020.100793
Blood Reviews; Casini A, Neerman-Arbez M et. al.

Jan 10th, 2021 - Fibrinogen is a complex protein playing a major role in coagulation. Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. Even though the clinical course is unpredictable and...

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