Matches in SemOpenAlex for { <https://semopenalex.org/work/W2769164401> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W2769164401 abstract "A colestase intra-hepática familiar progressiva (PFIC) é um grupo heterogêneo de doenças raras, de herança autossômica recessiva, que se apresenta com colestase hepatocelular devido a um defeito na secreção biliar, geralmente manifestada na infância. Suas características clínicas comuns são: icterícia na primeira infância, hepatosesplenomegalia, prurido intratável grave e retardo de crescimento. Não se conhece bem a epidemiologia dessas doenças, mas estima-se que a incidência seja de 1:50 mil a 1:100 mil nascimentos. A PFIC acomete igualmente ambos os sexos e tem sido relatada em diversas regiões geográficas. Descrevemos dois casos de irmãos, filhos de pais consanguíneos com a PFIC tipo 1. O presente relato busca ampliar o conhecimento médico dessas manifestações genéticas raras e auxiliar no diagnóstico precoce dos pacientes com a enfermidade." @default.
- W2769164401 created "2017-12-04" @default.
- W2769164401 creator A5057118267 @default.
- W2769164401 creator A5063890661 @default.
- W2769164401 creator A5082611995 @default.
- W2769164401 creator A5083325003 @default.
- W2769164401 date "2017-11-13" @default.
- W2769164401 modified "2023-09-25" @default.
- W2769164401 title "Colestase intra-hepática familiar progressiva: relato de dois casos" @default.
- W2769164401 cites W179356329 @default.
- W2769164401 cites W1963668654 @default.
- W2769164401 cites W1965779979 @default.
- W2769164401 cites W1978329768 @default.
- W2769164401 cites W1988707086 @default.
- W2769164401 cites W1994409700 @default.
- W2769164401 cites W2008116498 @default.
- W2769164401 cites W2020935194 @default.
- W2769164401 cites W2091721817 @default.
- W2769164401 doi "https://doi.org/10.23925/1984-4840.2017v19i3a13" @default.
- W2769164401 hasPublicationYear "2017" @default.
- W2769164401 type Work @default.
- W2769164401 sameAs 2769164401 @default.
- W2769164401 citedByCount "0" @default.
- W2769164401 crossrefType "journal-article" @default.
- W2769164401 hasAuthorship W2769164401A5057118267 @default.
- W2769164401 hasAuthorship W2769164401A5063890661 @default.
- W2769164401 hasAuthorship W2769164401A5082611995 @default.
- W2769164401 hasAuthorship W2769164401A5083325003 @default.
- W2769164401 hasBestOaLocation W27691644011 @default.
- W2769164401 hasConcept C107130276 @default.
- W2769164401 hasConcept C120665830 @default.
- W2769164401 hasConcept C121332964 @default.
- W2769164401 hasConcept C126322002 @default.
- W2769164401 hasConcept C16005928 @default.
- W2769164401 hasConcept C187212893 @default.
- W2769164401 hasConcept C2778132995 @default.
- W2769164401 hasConcept C2778456037 @default.
- W2769164401 hasConcept C2778593092 @default.
- W2769164401 hasConcept C2779134260 @default.
- W2769164401 hasConcept C2779609443 @default.
- W2769164401 hasConcept C2779701055 @default.
- W2769164401 hasConcept C2779923321 @default.
- W2769164401 hasConcept C2911091166 @default.
- W2769164401 hasConcept C61511704 @default.
- W2769164401 hasConcept C71924100 @default.
- W2769164401 hasConcept C90924648 @default.
- W2769164401 hasConceptScore W2769164401C107130276 @default.
- W2769164401 hasConceptScore W2769164401C120665830 @default.
- W2769164401 hasConceptScore W2769164401C121332964 @default.
- W2769164401 hasConceptScore W2769164401C126322002 @default.
- W2769164401 hasConceptScore W2769164401C16005928 @default.
- W2769164401 hasConceptScore W2769164401C187212893 @default.
- W2769164401 hasConceptScore W2769164401C2778132995 @default.
- W2769164401 hasConceptScore W2769164401C2778456037 @default.
- W2769164401 hasConceptScore W2769164401C2778593092 @default.
- W2769164401 hasConceptScore W2769164401C2779134260 @default.
- W2769164401 hasConceptScore W2769164401C2779609443 @default.
- W2769164401 hasConceptScore W2769164401C2779701055 @default.
- W2769164401 hasConceptScore W2769164401C2779923321 @default.
- W2769164401 hasConceptScore W2769164401C2911091166 @default.
- W2769164401 hasConceptScore W2769164401C61511704 @default.
- W2769164401 hasConceptScore W2769164401C71924100 @default.
- W2769164401 hasConceptScore W2769164401C90924648 @default.
- W2769164401 hasLocation W27691644011 @default.
- W2769164401 hasOpenAccess W2769164401 @default.
- W2769164401 hasPrimaryLocation W27691644011 @default.
- W2769164401 isParatext "false" @default.
- W2769164401 isRetracted "false" @default.
- W2769164401 magId "2769164401" @default.
- W2769164401 workType "article" @default.