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Casini A, de Moerloose P, Neerman-Arbez M. Clinical Features and Management of Congenital Fibrinogen Deficiencies. Semin Thromb Hemost 2016;42(4):366-374.CasiniAdeMoerloose PNeerman-ArbezMClinical Features and Management of Congenital Fibrinogen DeficienciesSemin Thromb Hemost201642436637410.1055/s-0036-157133927019462Search in Google Scholar
de Moerloose P, Casini A, Neerman-Arbez M. Congenital fibrinogen disorders: an update. Semin Thromb Hemost 2013;39(6):585-595.deMoerloose PCasiniANeerman-ArbezMCongenital fibrinogen disorders: an updateSemin Thromb Hemost201339658559510.1055/s-0033-134922223852822Search in Google Scholar
Casini A, von Mackensen S, Santoro C, et al. Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia. Blood 2021;137(22):3127-3136.CasiniAvon MackensenSSantoroCet alClinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemiaBlood2021137223127313610.1182/blood.202000947233512441Search in Google Scholar
Peck RC, Fitzgibbon L, Reilly-Stitt C, Doherty C, Phillips E, Mumford AD. Pseudohomozygous dysfibrinogenemia. Res Pract Thromb Haemost 2021;5(6):e12568.PeckRCFitzgibbonLReilly-StittCDohertyCPhillipsEMumfordADPseudohomozygous dysfibrinogenemiaRes Pract Thromb Haemost202156e1256810.1002/rth2.12568838007934458664Search in Google Scholar
Brunclikova M, Simurda T, Zolkova J, et al. Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis. J Clin Med 2022;11(4).BrunclikovaMSimurdaTZolkovaJet alHeterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and ThrombosisJ Clin Med202211410.3390/jcm11041083887497335207353Search in Google Scholar
Simurda T, Asselta R, Zolkova J, et al. Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management. Diagnostics (Basel) 2021;11(11).SimurdaTAsseltaRZolkovaJet alCongenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging ManagementDiagnostics (Basel)2021111110.3390/diagnostics11112140862209334829490Search in Google Scholar
Casini A, Blondon M, Lebreton A, et al. Natural history of patients with congenital dysfibrinogenemia. Blood 2015;125(3):553-561.CasiniABlondonMLebretonAet alNatural history of patients with congenital dysfibrinogenemiaBlood2015125355356110.1182/blood-2014-06-582866429601525320241Search in Google Scholar
Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P. Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation. J Thromb Haemost 2017;15(5):876-888.CasiniABrungsTLavenu-BombledCVilarRNeerman-ArbezMdeMoerloose PGenetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutationJ Thromb Haemost201715587688810.1111/jth.1365528211264Search in Google Scholar
Arai S, Kamijo T, Takezawa Y, et al. Acquired dysfibrinogenemia: monoclonal lambda-type IgA binding to fibrinogen caused lower functional plasma fibrinogen level and abnormal clot formation. Int J Hematol 2020;112(1):96-104.AraiSKamijoTTakezawaYet alAcquired dysfibrinogenemia: monoclonal lambda-type IgA binding to fibrinogen caused lower functional plasma fibrinogen level and abnormal clot formationInt J Hematol202011219610410.1007/s12185-020-02874-132253663Search in Google Scholar
Besser MW, MacDonald SG. Acquired hypofibrinogenemia: current perspectives. J Blood Med 2016;7:217-225.BesserMWMacDonaldSGAcquired hypofibrinogenemia: current perspectivesJ Blood Med2016721722510.2147/JBM.S90693504521827713652Search in Google Scholar
Undas A. How to Assess Fibrinogen Levels and Fibrin Clot Properties in Clinical Practice? Semin Thromb Hemost 2016;42(4):381-388.UndasAHow to Assess Fibrinogen Levels and Fibrin Clot Properties in Clinical Practice?Semin Thromb Hemost201642438138810.1055/s-0036-157963627071050Search in Google Scholar
Krammer B, Anders O, Nagel HR, Burstein C, Steiner M. Screening of dysfibrinogenaemia using the fibrinogen function versus antigen concentration ratio. Thromb Res 1994;76(6):577-579.KrammerBAndersONagelHRBursteinCSteinerMScreening of dysfibrinogenaemia using the fibrinogen function versus antigen concentration ratioThromb Res199476657757910.1016/0049-3848(94)90287-97900105Search in Google Scholar
Suzuki A, Suzuki N, Kanematsu T, et al. Development and validation of a novel qualitative test for plasma fibrinogen utilizing clot waveform analysis. Sci Rep 2022;12(1):434.SuzukiASuzukiNKanematsuTet alDevelopment and validation of a novel qualitative test for plasma fibrinogen utilizing clot waveform analysisSci Rep202212143410.1038/s41598-021-04464-5878286035064141Search in Google Scholar
Undas A. Determination of Fibrinogen and Thrombin Time (TT). Methods Mol Biol 2017;1646:105-110.UndasADetermination of Fibrinogen and Thrombin Time (TT)Methods Mol Biol2017164610511010.1007/978-1-4939-7196-1_828804822Search in Google Scholar
Mackie IJ, Kitchen S, Machin SJ, Lowe GD, Haemostasis, Thrombosis Task Force of the British Committee for Standards in H. Guidelines on fibrinogen assays. Br J Haematol 2003;121(3):396-404.MackieIJKitchenSMachinSJLoweGDHaemostasisThrombosis Task Force of the British Committee for Standards in HGuidelines on fibrinogen assaysBr J Haematol2003121339640410.1046/j.1365-2141.2003.04256.x12716361Search in Google Scholar
Skornova I, Simurda T, Stasko J, et al. Use of Fibrinogen Determination Methods in Differential Diagnosis of Hypofibrinogenemia and Dysfibrinogenemia. Clin Lab 2021;67(4).SkornovaISimurdaTStaskoJet alUse of Fibrinogen Determination Methods in Differential Diagnosis of Hypofibrinogenemia and DysfibrinogenemiaClin Lab202167410.7754/Clin.Lab.2020.20082033865248Search in Google Scholar
Xiang L, Luo M, Yan J, et al. Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia. J Clin Lab Anal 2018;32(4):e22322.XiangLLuoMYanJet alCombined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemiaJ Clin Lab Anal2018324e2232210.1002/jcla.22322681687628922493Search in Google Scholar
Shapiro SE, Phillips E, Manning RA, et al. Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia. Br J Haematol 2013;160(2):220-227.ShapiroSEPhillipsEManningRAet alClinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemiaBr J Haematol2013160222022710.1111/bjh.1208523061815Search in Google Scholar
Jennings I, Kitchen S, Menegatti M, et al. Potential misdiagnosis of dysfibrinogenaemia: Data from multicentre studies amongst UK NEQAS and PRO-RBDD project laboratories. Int J Lab Hematol 2017;39(6):653-662.JenningsIKitchenSMenegattiMet alPotential misdiagnosis of dysfibrinogenaemia: Data from multicentre studies amongst UK NEQAS and PRO-RBDD project laboratoriesInt J Lab Hematol201739665366210.1111/ijlh.1272128766854Search in Google Scholar
Leung B, Beggs J, Mason J. Fibrinogen Longmont: A Clinically Heterogeneous Dysfibrinogenemia with Discrepant Fibrinogen Results Influenced by Clot Detection Method and Reagent. TH Open 2022;6(1):e18-e20.LeungBBeggsJMasonJFibrinogen Longmont: A Clinically Heterogeneous Dysfibrinogenemia with Discrepant Fibrinogen Results Influenced by Clot Detection Method and ReagentTH Open202261e18e2010.1055/s-0041-1740644878655935088022Search in Google Scholar
Casini A, Undas A, Palla R, et al. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH. J Thromb Haemost 2018;16(9):1887-1890.CasiniAUndasAPallaRet alDiagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTHJ Thromb Haemost20181691887189010.1111/jth.1421630076675Search in Google Scholar
Casini A. From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders. Hamostaseologie 2020.CasiniAFrom Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen DisordersHamostaseologie202010.1055/a-1182-351032645726Search in Google Scholar
Richard M, Celeny D, Neerman-Arbez M. Mutations Accounting for Congenital Fibrinogen Disorders: An Update. Semin Thromb Hemost 2022.RichardMCelenyDNeerman-ArbezMMutations Accounting for Congenital Fibrinogen Disorders: An UpdateSemin Thromb Hemost202210.1055/s-0041-174217035073585Search in Google Scholar
Cao Z, Dong Y, Zeng J, et al. Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogen. Thromb Res 2019;177:79-82.CaoZDongYZengJet alWhole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogenThromb Res2019177798210.1016/j.thromres.2019.03.00230856382Search in Google Scholar
Casini A, Blondon M, Tintillier V, et al. Mutational Epidemiology of Congenital Fibrinogen Disorders. Thromb Haemost 2018;118(11):1867-1874.CasiniABlondonMTintillierVet alMutational Epidemiology of Congenital Fibrinogen DisordersThromb Haemost2018118111867187410.1055/s-0038-167368530332696Search in Google Scholar
Neerman-Arbez M, de Moerloose P, Casini A. Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders. Semin Thromb Hemost 2016;42(4):356-365.Neerman-ArbezMde MoerloosePCasiniALaboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen DisordersSemin Thromb Hemost201642435636510.1055/s-0036-157134027019463Search in Google Scholar
Attanasio C, de Moerloose P, Antonarakis SE, Morris MA, Neerman-Arbez M. Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T. Blood 2001;97(6):1879-1881.AttanasioCdeMoerloose PAntonarakisSEMorrisMANeerman-ArbezMActivation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->TBlood20019761879188110.1182/blood.V97.6.1879Search in Google Scholar
Neerman-Arbez M, Antonarakis SE, Honsberger A, Morris MA. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster. Eur J Hum Genet 1999;7(8):897-902.Neerman-ArbezMAntonarakisSEHonsbergerAMorrisMAThe 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene clusterEur J Hum Genet19997889790210.1038/sj.ejhg.520039510602365Search in Google Scholar
Casini A, de Moerloose P. How I treat dysfibrinogenemia. Blood 2021;138(21):2021-2030.CasiniAdeMoerloose PHow I treat dysfibrinogenemiaBlood2021138212021203010.1182/blood.202001011633895794Search in Google Scholar
Li Y, Ding B, Wang X, Ding Q. Congenital (hypo-)dysfibrinogenemia and bleeding: A systematic literature review. Thromb Res 2022;217:36-47.LiYDingBWangXDingQCongenital (hypo-)dysfibrinogenemia and bleeding: A systematic literature reviewThromb Res2022217364710.1016/j.thromres.2022.07.00535853369Search in Google Scholar
Casini A, Neerman-Arbez M, Ariens RA, de Moerloose P. Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management. J Thromb Haemost 2015;13(6):909-919.CasiniANeerman-ArbezMAriensRAdeMoerloose PDysfibrinogenemia: from molecular anomalies to clinical manifestations and managementJ Thromb Haemost201513690991910.1111/jth.1291625816717Search in Google Scholar
Casini A, de Moerloose P. Can the phenotype of inherited fibrinogen disorders be predicted? Haemophilia 2016;22(5):667-675.CasiniAdeMoerloose PCan the phenotype of inherited fibrinogen disorders be predicted?Haemophilia201622566767510.1111/hae.1296727293018Search in Google Scholar
Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995;73(1):151-161.HaverkateFSamamaMFamilial dysfibrinogenemia and thrombophiliaReport on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost199573115116110.1055/s-0038-1653741Search in Google Scholar
Engesser L, Koopman J, de Munk G, et al. Fibrinogen Nijmegen: congenital dysfibrinogenemia associated with impaired t-PA mediated plasminogen activation and decreased binding of t-PA. Thromb Haemost 1988;60(1):113-120.EngesserLKoopmanJde MunkGet alFibrinogen Nijmegen: congenital dysfibrinogenemia associated with impaired t-PA mediated plasminogen activation and decreased binding of t-PAThromb Haemost198860111312010.1055/s-0038-1647646Search in Google Scholar
Koopman J, Haverkate F, Lord ST, Grimbergen J, Mannucci PM. Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr. J Clin Invest 1992;90(1):238-244.KoopmanJHaverkateFLordSTGrimbergenJMannucciPMMolecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophiliaHomozygous substitution of B beta 68 Ala----Thr. J Clin Invest199290123824410.1172/JCI1158414430861634610Search in Google Scholar
Marchi R, Lundberg U, Grimbergen J, et al. Fibrinogen Caracas V, an abnormal fibrinogen with an Aalpha 532 Ser-->Cys substitution associated with thrombosis. Thromb Haemost 2000;84(2):263-270.MarchiRLundbergUGrimbergenJet alFibrinogen Caracas V, an abnormal fibrinogen with an Aalpha 532 Ser-->Cys substitution associated with thrombosisThromb Haemost200084226327010.1055/s-0037-1614006Search in Google Scholar
Collet JP, Soria J, Mirshahi M, et al. Dusart syndrome: a new concept of the relationship between fibrin clot architecture and fibrin clot degradability: hypofibrinolysis related to an abnormal clot structure. Blood 1993;82(8):2462-2469.ColletJPSoriaJMirshahiMet alDusart syndrome: a new concept of the relationship between fibrin clot architecture and fibrin clot degradability: hypofibrinolysis related to an abnormal clot structureBlood19938282462246910.1182/blood.V82.8.2462.2462Search in Google Scholar
Tarumi T, Martincic D, Thomas A, et al. Familial thrombophilia associated with fibrinogen paris V: Dusart syndrome. Blood 2000;96(3):1191-1193.TarumiTMartincicDThomasAet alFamilial thrombophilia associated with fibrinogen paris V: Dusart syndromeBlood20009631191119310.1182/blood.V96.3.1191Search in Google Scholar
Wada Y, Lord ST. A correlation between thrombotic disease and a specific fibrinogen abnormality (A alpha 554 Arg-->Cys) in two unrelated kindred, Dusart and Chapel Hill III. Blood 1994; 84(11):3709-3714.WadaYLordSTA correlation between thrombotic disease and a specific fibrinogen abnormality (A alpha 554 Arg-->Cys) in two unrelated kindred, Dusart and Chapel Hill IIIBlood199484113709371410.1182/blood.V84.11.3709.bloodjournal84113709Search in Google Scholar
Koopman J, Haverkate F, Grimbergen J, et al. Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia. J Clin Invest 1993;91(4):1637-1643.KoopmanJHaverkateFGrimbergenJet alMolecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophiliaJ Clin Invest19939141637164310.1172/JCI1163712881418473507Search in Google Scholar
Asselta R, Paraboschi EM, Duga S. Hereditary Hypofibrinogenemia with Hepatic Storage. Int J Mol Sci 2020;21(21).AsseltaRParaboschiEMDugaSHereditary Hypofibrinogenemia with Hepatic StorageInt J Mol Sci2020212110.3390/ijms21217830765995433105716Search in Google Scholar
Casini A, Neerman-Arbez M, de Moerloose P. Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management. Blood Rev 2021;48:100793.CasiniANeerman-ArbezMdeMoerloose PHeterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and managementBlood Rev20214810079310.1016/j.blre.2020.10079333419567Search in Google Scholar
Casini A, von Mackensen S, Santoro C, et al. Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia. Blood 2021;137(22):3127-3136.CasiniAvon MackensenSSantoroCet alClinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemiaBlood2021137223127313610.1182/blood.202000947233512441Search in Google Scholar
Saes JL, Verhagen MJA, Meijer K, et al. Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study. Blood Adv 2020;4(20):5025-5034.SaesJLVerhagenMJAMeijerKet alBleeding severity in patients with rare bleeding disorders: real-life data from the RBiN studyBlood Adv20204205025503410.1182/bloodadvances.2020002740759438833064819Search in Google Scholar
Peyvandi F, Palla R, Menegatti M, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10(4):615-621.PeyvandiFPallaRMenegattiMet alCoagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding DisordersJ Thromb Haemost201210461562110.1182/blood.V118.21.3312.3312Search in Google Scholar
Callea F, Giovannoni I, Sari S, et al. Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage. Int J Mol Sci 2017;18(12).CalleaFGiovannoniISariSet alFibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver StorageInt J Mol Sci2017181210.3390/ijms18122717575131829244742Search in Google Scholar
Castaman G, Giacomelli SH, Biasoli C, Contino L, Radossi P. Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders. Eur J Haematol 2019;103(4):379-384.CastamanGGiacomelliSHBiasoliCContinoLRadossiPRisk of bleeding and thrombosis in inherited qualitative fibrinogen disordersEur J Haematol2019103437938410.1111/ejh.1329631314131Search in Google Scholar
Wypasek E, Klukowska A, Zdziarska J, et al. Genetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutations. Thromb Res 2019;182:133-140.WypasekEKlukowskaAZdziarskaJet alGenetic and clinical characterization of congenital fibrinogen disorders in Polish patients: Identification of three novel fibrinogen gamma chain mutationsThromb Res201918213314010.1016/j.thromres.2019.08.01231479941Search in Google Scholar
Zhou J, Ding Q, Chen Y, et al. Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. Blood Cells Mol Dis 2015;55(4):308-315.ZhouJDingQChenYet alClinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemiaBlood Cells Mol Dis201555430831510.1016/j.bcmd.2015.06.00226460252Search in Google Scholar
Shen YM, Trang V, Sarode R, Brennan S. Fibrinogen Dusart presenting as recurrent thromboses in the hepatic portal system. Blood Coagul Fibrinolysis 2014;25(4):392-394.ShenYMTrangVSarodeRBrennanSFibrinogen Dusart presenting as recurrent thromboses in the hepatic portal systemBlood Coagul Fibrinolysis201425439239410.1097/MBC.000000000000004524384913Search in Google Scholar