Results 61 to 70 of about 760 (168)

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

Fibrinogen gene mutations accounting for congenital afibrinogenemia [PDF]

, 2001
This article reviews recent progress made in understanding the molecular basis of congenital afibrinogenemia, an autosomal recessive coagulation disorder characterized by the complete absence of detectable fibrinogen.
Neerman Arbez, Marguerite
core  

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

Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia [PDF]

, 2012
Congenital afibrinogenemia is characterized by the complete absence of fibrinogen, the precursor of the major protein constituent of the blood clot, fibrin.
De Moerloose, Philippe, Alson, Olivat Rakoto, Neerman Arbez, Marguerite, Tirefort, Yordanka   +3 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 [PDF]

, 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  

Spinal Cord Infarction in Congenital Afibrinogenemia: A Case Report and Review of the Literature [PDF]

, 2009
A 22-year-old woman with congenital afibrinogenemia presented with acute-onset rapidly progressive quadriparesis as a result of spinal cord infarction caused by vertebral artery dissection.
Bas, Demet Funda, Oguz, Kader Karli, TOPÇUOĞLU, MEHMET AKİF, Yavuz, Kivilcim   +3 more
core   +1 more source

Spontaneous vulvar hematoma as a rare manifestation of congenital hypofibrinogenemia. Case report

Case Reports, 2019
Introduction: Congenital fibrinogen disorders are rare conditions in which there are quantitative and qualitative alterations of factor I; the vast majority of patients are asymptomatic.
Sebastián Felipe Sierra-Umaña, Rafael García-Sanchez, Laura Camila Urrutia-Corredor, Jessica Tatiana Olarte-Luis, Dolli Yineth Cáceres-Galíndez   +4 more
doaj   +1 more source