Results 1 to 10 of about 1,250 (185)

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

open access: yesClinical Case Reports (discontinued), 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 ...
Mingshu Mo
exaly   +4 more sources

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

open access: yesDiagnostics, 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,
Tomas Simurda   +2 more
exaly   +4 more sources

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

open access: yesPediatric Reports, 2021
Detection of severe hypofibrinogenemia (
Jun Shinozuka   +6 more
doaj   +3 more sources

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

open access: yesItalian Journal of Pediatrics, 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.
Parapurath Rajiv   +2 more
doaj   +2 more sources

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

open access: yesThrombosis Journal, 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 ...
Arshi Naz   +9 more
doaj   +2 more sources

Congenital afibrinogenemia in a newborn

open access: yesSanamed, 2022
Introduction: Congenital afibrinogenemia is a rare coagulation disorder characterized by a deficiency in the fibrinogen molecule. Fibrinogen is a hexameric glycoprotein consisting of a polypeptide chain encoded by FGB, FGA, and FGG and is required for ...
Özay Mustafa   +2 more
doaj   +3 more sources

Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death

open access: yesClinical and Applied Thrombosis/Hemostasis, 2020
Congenital fibrinogen disorders are a group of most frequent rare coagulation disorder, characterized by deficiency and/or defects in the fibrinogen molecule. Quantitative disorders include hypofibrinogenemia and afibrinogenemia.
Yue Teng
exaly   +2 more sources

Recurrent myocardial infarction in a case of congenital Afibrinogenemia

open access: yesHeart 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.
Soumya Patra   +4 more
doaj   +2 more sources

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

open access: yesIndian Journal of Anaesthesia, 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.
Sham Sunder Goyal   +3 more
doaj   +2 more sources

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

open access: yesThrombosis Journal, 2019
Following the publication of this article [1], the authors noted the following typographical errors.
Arshi Naz   +9 more
doaj   +2 more sources

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