FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1970217192> ?p ?o ?g. }

• W1970217192 endingPage "595" @default.
• W1970217192 startingPage "585" @default.
• W1970217192 abstract "Hereditary fibrinogen abnormalities comprise two classes of plasma fibrinogen defects: Type I, afibrinogenemia or hypofibrinogenemia, which has absent or low plasma fibrinogen antigen levels (quantitative fibrinogen deficiencies), and Type II, dysfibrinogenemia or hypodysfibrinogenemia, which shows normal or reduced antigen levels associated with disproportionately low functional activity (qualitative fibrinogen deficiencies). In afibrinogenemia and hypofibrinogenemia, most mutations of the <i>FGA</i>, <i>FGB</i>, or <i>FGG</i> fibrinogen encoding genes are null mutations. In some cases, missense or late truncating nonsense mutations allow synthesis of the corresponding fibrinogen chain but intracellular fibrinogen assembly and/or secretion are impaired. Afibrinogenemia is associated with mild-to-severe bleeding, whereas hypofibrinogenemia is most often asymptomatic. Thromboembolism may occur either spontaneously or in association with fibrinogen substitution therapy. Women with afibrinogenemia suffer from recurrent pregnancy loss but this can also occur in women with hypofibrinogenemia. Dysfibrinogenemia, caused mainly by missense mutations, is commonly associated with bleeding, thrombophilia, or both; however, most individuals are asymptomatic. Hypodysfibrinogenemia is a subcategory of this disorder. Even in specialized laboratories, the precise diagnosis of some fibrinogen disorders may be difficult. Determination of the molecular defects is important because it gives the possibility to confirm the diagnosis, to elaborate a diagnostic strategy, to distinguish in some cases that the patient is at risk of thrombosis rather than bleeding, and to enable prenatal diagnosis. However, genotype–phenotype correlations are not easy to establish. Replacement therapy is effective in treating bleeding episodes, but because the pharmacokinetics of fibrinogen after replacement therapy is highly variable among patients, it is important to adjust the treatment individually." @default.
• W1970217192 created "2016-06-24" @default.
• W1970217192 creator A5000353884 @default.
• W1970217192 creator A5022957457 @default.
• W1970217192 creator A5084750013 @default.
• W1970217192 date "2013-07-12" @default.
• W1970217192 modified "2023-09-30" @default.
• W1970217192 title "Congenital Fibrinogen Disorders: An Update" @default.
• W1970217192 cites W142537346 @default.
• W1970217192 cites W1496174784 @default.
• W1970217192 cites W1507198332 @default.
• W1970217192 cites W1509587661 @default.
• W1970217192 cites W1526685564 @default.
• W1970217192 cites W1575441707 @default.
• W1970217192 cites W1890878658 @default.
• W1970217192 cites W1926341681 @default.
• W1970217192 cites W1975611514 @default.
• W1970217192 cites W1977564287 @default.
• W1970217192 cites W1984514375 @default.
• W1970217192 cites W1986886041 @default.
• W1970217192 cites W1991844766 @default.
• W1970217192 cites W1996782220 @default.
• W1970217192 cites W2020547352 @default.
• W1970217192 cites W2023505741 @default.
• W1970217192 cites W2040641535 @default.
• W1970217192 cites W2043573822 @default.
• W1970217192 cites W2062923310 @default.
• W1970217192 cites W2074842182 @default.
• W1970217192 cites W2080856060 @default.
• W1970217192 cites W2085861396 @default.
• W1970217192 cites W2116228429 @default.
• W1970217192 cites W2118409138 @default.
• W1970217192 cites W2120305337 @default.
• W1970217192 cites W2159771415 @default.
• W1970217192 cites W2171599257 @default.
• W1970217192 cites W2401610472 @default.
• W1970217192 cites W2412202983 @default.
• W1970217192 doi "https://doi.org/10.1055/s-0033-1349222" @default.
• W1970217192 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23852822" @default.
• W1970217192 hasPublicationYear "2013" @default.
• W1970217192 type Work @default.
• W1970217192 sameAs 1970217192 @default.
• W1970217192 citedByCount "197" @default.
• W1970217192 countsByYear W19702171922013 @default.
• W1970217192 countsByYear W19702171922014 @default.
• W1970217192 countsByYear W19702171922015 @default.
• W1970217192 countsByYear W19702171922016 @default.
• W1970217192 countsByYear W19702171922017 @default.
• W1970217192 countsByYear W19702171922018 @default.
• W1970217192 countsByYear W19702171922019 @default.
• W1970217192 countsByYear W19702171922020 @default.
• W1970217192 countsByYear W19702171922021 @default.
• W1970217192 countsByYear W19702171922022 @default.
• W1970217192 countsByYear W19702171922023 @default.
• W1970217192 crossrefType "journal-article" @default.
• W1970217192 hasAuthorship W1970217192A5000353884 @default.
• W1970217192 hasAuthorship W1970217192A5022957457 @default.
• W1970217192 hasAuthorship W1970217192A5084750013 @default.
• W1970217192 hasBestOaLocation W19702171921 @default.
• W1970217192 hasConcept C104317684 @default.
• W1970217192 hasConcept C126322002 @default.
• W1970217192 hasConcept C2777910003 @default.
• W1970217192 hasConcept C2779036427 @default.
• W1970217192 hasConcept C2779936836 @default.
• W1970217192 hasConcept C2780842393 @default.
• W1970217192 hasConcept C2780868729 @default.
• W1970217192 hasConcept C2910029113 @default.
• W1970217192 hasConcept C2910129229 @default.
• W1970217192 hasConcept C501734568 @default.
• W1970217192 hasConcept C54355233 @default.
• W1970217192 hasConcept C71924100 @default.
• W1970217192 hasConcept C75563809 @default.
• W1970217192 hasConcept C86803240 @default.
• W1970217192 hasConceptScore W1970217192C104317684 @default.
• W1970217192 hasConceptScore W1970217192C126322002 @default.
• W1970217192 hasConceptScore W1970217192C2777910003 @default.
• W1970217192 hasConceptScore W1970217192C2779036427 @default.
• W1970217192 hasConceptScore W1970217192C2779936836 @default.
• W1970217192 hasConceptScore W1970217192C2780842393 @default.
• W1970217192 hasConceptScore W1970217192C2780868729 @default.
• W1970217192 hasConceptScore W1970217192C2910029113 @default.
• W1970217192 hasConceptScore W1970217192C2910129229 @default.
• W1970217192 hasConceptScore W1970217192C501734568 @default.
• W1970217192 hasConceptScore W1970217192C54355233 @default.
• W1970217192 hasConceptScore W1970217192C71924100 @default.
• W1970217192 hasConceptScore W1970217192C75563809 @default.
• W1970217192 hasConceptScore W1970217192C86803240 @default.
• W1970217192 hasIssue "06" @default.
• W1970217192 hasLocation W19702171921 @default.
• W1970217192 hasLocation W19702171922 @default.
• W1970217192 hasOpenAccess W1970217192 @default.
• W1970217192 hasPrimaryLocation W19702171921 @default.
• W1970217192 hasRelatedWork W1519798613 @default.
• W1970217192 hasRelatedWork W1970217192 @default.
• W1970217192 hasRelatedWork W1996782220 @default.
• W1970217192 hasRelatedWork W2038570633 @default.
• W1970217192 hasRelatedWork W2159018639 @default.
• W1970217192 hasRelatedWork W2314526014 @default.

• next