Results 1 to 10 of about 1,227 (170)

A case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic disorders. [PDF]

Clin Case Rep, 2022
This is a case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic events. His fibrinogen concentration was negatively correlated with thrombin time and prothrombin time and abnormally negatively correlated with plasma D‐dimer levels ...
Wei L, Tang Y, Wu Z, Xu P, Mo M.
europepmc   +3 more sources

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management. [PDF]

Diagnostics (Basel), 2021
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous,
Simurda T, Asselta R, Zolkova J, Brunclikova M, Dobrotova M, Kolkova Z, Loderer D, Skornova I, Hudecek J, Lasabova Z, Stasko J, Kubisz P.   +11 more
europepmc   +2 more sources

Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene [PDF]

Pediatric Reports, 2021
Detection of severe hypofibrinogenemia (
Jun Shinozuka, Nobuo Okumura, Mayumi Nagasawa, Motokazu Nishikado, Sayaka Kadowaki, Itsuro Katsuda, Shinsaku Imashuku   +6 more
doaj   +3 more sources

Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. [PDF]

Thromb J, 2017
Background Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma ...
Naz A, Biswas A, Khan TN, Goodeve A, Ahmed N, Saqlain N, Ahmed S, Ujjan ID, Shamsi TS, Oldenburg J.   +9 more
europepmc   +2 more sources

Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report. [PDF]

Ital J Pediatr, 2010
Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1.
Hariharan G, Ramachandran S, Parapurath R.   +2 more
europepmc   +2 more sources

Recurrent myocardial infarction in a case of congenital afibrinogenemia.

Heart Views, 2014
Afibrinogenemia is a rare autosomal recessive bleeding disorder with an estimated prevalence of 1:1,000,000. Usual presentation of this disorder is spontaneous bleeding, bleeding after minor trauma and excessive bleeding during interventional procedures.
Patra S, Reddy B, Nagesh CM, Srinivas BC, Manjunath CN.   +4 more
europepmc   +2 more sources

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. [PDF]

Thromb J, 2019
Following the publication of this article [1], the authors noted the following typographical errors.
Naz A, Biswas A, Khan TN, Goodeve A, Ahmed N, Saqlain N, Ahmed S, Ujjan ID, Shamsi TS, Oldenburg J.   +9 more
europepmc   +2 more sources

Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder.

Indian J Anaesth, 2011
Congenital afibrinogenemia is a very rare autosomal recessive disorder, results from mutation that affects plasma fibrinogen concentration. It is frequently associated with bleeding diathesis of varying severity.
Goyal SS, Bhardwaj DV, Shenoy U, Reddy B.   +3 more
europepmc   +2 more sources

The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice. [PDF]

Res Pract Thromb Haemost
Congenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Mohsenian S, Casini A, Peyvandi F.
europepmc   +2 more sources

Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database. [PDF]

Res Pract Thromb Haemost
Background: Women and girls with congenital fibrinogen deficiencies (CFDs) face higher hemorrhagic risks during their reproductive years, yet data on gynecologic and obstetric complications remain limited.
Mohsenian S, Palla R, Menegatti M, Cairo A, Siboni SM, Neerman-Arbez M, Karimi M, Pargantou H, Asselta R, Mikovic D, Saracevic M, Laros-van Gorkom B, Jacobs L, Shapiro A, Williamson A, Makris M, Casini A, Peyvandi F.   +17 more
europepmc   +3 more sources