Results 51 to 60 of about 239,927 (172)

A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia

, 2019
Background: Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known.
Yasemin Coban, KÖKER, ALPER, Marguerite Neerman-Arbez, Neerman Arbez, Marguerite, Aydin Koker, Sultan, Yilmaz Akbas, Gökçen Ö. Tunçer, Coban, Yasemin, Ö Tunçer, Gökçen, T Kara, Tugce, Alper Köker, Tuncer, Gokcen O., Neerman-Arbez, Marguerite, Kara, Tugce T., Tugce T. Kara, Sultan Aydin Köker, Akbas, Yilmaz   +16 more
core   +1 more source

Plasma viscosity pattern and erythrocyte aggregation in two patients with congenital afibrinogenemia

, 2020
In this case report, we examine the behavior of plasma viscosity, explored at high and low shear rates, and erythrocyte aggregation in two patients with congenital afibrinogenemia, a clinical disorder firstly described in 1920 and that has an estimated ...
Gregorio Caimi, Caimi, Gregorio, Mariasanta Napolitano, Simona Raso, Lo Presti, Rosalia, Raso, Simona, Napolitano, Mariasanta, Rosalia Lo Presti, Siragusa, Sergio, Sergio Siragusa   +9 more
core   +1 more source

Severe haemorrhages leading to a diagnosis of rare bleeding disorder occur at a very young age: A study from the FranceCoag network

Haemophilia, Volume 30, Issue 4, Page 981-987, July 2024.
Abstract Introduction In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse.
Sandrine Meunier, Annie Harroche, Antoine Rauch, Cécile Bally, Yoann Huguenin, Romain Voltzenlogel, Clémence Tabélé, Hervé Chambost, Martine Balençon, FranceCoag   +9 more
wiley   +1 more source

Abstract

, 2022
Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley   +1 more source

Glanzmann′s thrombasthenia: A case report and review

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Glanzmann′s thrombasthenia (GT) is a rare autosomal recessive disorder and characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein (GP) Ilb and Illa. Usually, the disease leads to mild hemorrhage but sometimes bleeding
Ajit D Dinkar, Sujata K Satoskar, Amit Gothwal   +2 more
doaj   +1 more source

Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants

Haematologica, 2008
Background Congenital afibrinogenemia is characterized by the absence of fibrinogen, a hexamer composed of two copies of three polypeptides, Aα. Bβ and γ. The disease is caused by mutations in one of the three fibrinogen-encoding genes, FGA, FGB and FGG.
Dung Vu, Corinne Di Sanza, Marguerite Neerman-Arbez   +2 more
doaj   +1 more source

Pregnancy outcome in afibrinogenemia: Are we giving enough fibrinogen concentrate? A case series

Research and Practice in Thrombosis and Haemostasis, 2020
Congenital afibrinogenemia is a rare autosomal recessive disorder associated with an increased risk of hemorrhage, thrombosis, and obstetric complications. This case series of 4 pregnancies in 2 related patients seeks to address the key clinical question
Joline L. Saes, Britta A. P. Laros‐van Gorkom, Michiel Coppens, Saskia E. M. Schols   +3 more
doaj   +1 more source

A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations

, 2015
Although congenital afibrinogenemia is a rare autosomal recessive bleeding disorder, it can be more frequently encountered in countries where consanguineous marriages are common.
KARAKÜKCÜ, Musa, PATIROĞLU, Türkan, ÖZDEMİR, Mustafa, Isik, Bilgen, ÜNAL, Ekrem, Yilmaz, Ebru, MUTLU, Fatma T.   +6 more
core   +1 more source

Fibrinogen deficiency in a dog - a case report

BMC Veterinary Research, 2017
Background Among coagulation disorders, primary fibrinogen deficiency is very rare in dogs. It is divided into hypofibrinogenemia, afibrinogenemia and dysfibrinogenemia. Afibrinogenemia has been described in three dogs.
Franck Jolivet, Armelle Diquélou, Catherine Trumel, Simon Privat, Olivier Dossin   +4 more
doaj   +1 more source

Congenital afibrinogenemia: A case report

, 2005
Konjenital afibrinojenemi oldukca nadir görülen bir koagülasyon bozukluğu olup plazma fibrinojeninin yokluğu ile karekterizedir. Literatürde ortalama 250 vaka olduğu belirtilmektedir. Bu hastalarda ciddi spontan kanamalar görülmez.
Fadime Yüksel, Hayri B. Toksoy, Semra Kara, Derya Büyükkayhan   +3 more
core   +1 more source