Alagille syndrome: from the cutaneous to the systemic

Here is reported the case of a girl with Alagille syndrome, in whom the keys to diagnosis were the dermatological manifestations characterized by chronic and persistent pruritus that led us to search for other systemic conditions, confirming the pathology.

Autores:
Macías, M.A.
Reina, A.
Motta Beltrán, Adriana
Truffello, D.
Sepúlveda, A.
Tipo de recurso:
Fecha de publicación:
2019
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
eng
OAI Identifier:
oai:repositorio.unbosque.edu.co:20.500.12495/2030
Acceso en línea:
https://hdl.handle.net/20.500.12495/2030
https://doi.org/10.26326/2281-9649.29.1.1941
Palabra clave:
Manifestaciones cutáneas
Enfermedades de los conductos biliares
Colestasis intrahepática
Pruritus
Cholestasis
Alagille syndrome
Rights
License
Acceso cerrado
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oai_identifier_str oai:repositorio.unbosque.edu.co:20.500.12495/2030
network_acronym_str UNBOSQUE2
network_name_str Repositorio U. El Bosque
repository_id_str
dc.title.spa.fl_str_mv Alagille syndrome: from the cutaneous to the systemic
dc.title.translated.none.fl_str_mv Alagille syndrome: from the cutaneous to the systemic
title Alagille syndrome: from the cutaneous to the systemic
spellingShingle Alagille syndrome: from the cutaneous to the systemic
Manifestaciones cutáneas
Enfermedades de los conductos biliares
Colestasis intrahepática
Pruritus
Cholestasis
Alagille syndrome
title_short Alagille syndrome: from the cutaneous to the systemic
title_full Alagille syndrome: from the cutaneous to the systemic
title_fullStr Alagille syndrome: from the cutaneous to the systemic
title_full_unstemmed Alagille syndrome: from the cutaneous to the systemic
title_sort Alagille syndrome: from the cutaneous to the systemic
dc.creator.fl_str_mv Macías, M.A.
Reina, A.
Motta Beltrán, Adriana
Truffello, D.
Sepúlveda, A.
dc.contributor.author.none.fl_str_mv Macías, M.A.
Reina, A.
Motta Beltrán, Adriana
Truffello, D.
Sepúlveda, A.
dc.contributor.orcid.none.fl_str_mv Motta, Adriana [0000-0002-1924-1256]
Motta Beltrán, Adriana [0000-0002-1924-1256]
Motta Beltrán, Adriana [0000-0002-1924-1256]
dc.subject.decs.spa.fl_str_mv Manifestaciones cutáneas
Enfermedades de los conductos biliares
Colestasis intrahepática
topic Manifestaciones cutáneas
Enfermedades de los conductos biliares
Colestasis intrahepática
Pruritus
Cholestasis
Alagille syndrome
dc.subject.keywords.spa.fl_str_mv Pruritus
Cholestasis
Alagille syndrome
description Here is reported the case of a girl with Alagille syndrome, in whom the keys to diagnosis were the dermatological manifestations characterized by chronic and persistent pruritus that led us to search for other systemic conditions, confirming the pathology.
publishDate 2019
dc.date.issued.none.fl_str_mv 2019
dc.date.accessioned.none.fl_str_mv 2020-03-13T20:52:54Z
dc.date.available.none.fl_str_mv 2020-03-13T20:52:54Z
dc.type.spa.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.local.spa.fl_str_mv artículo
dc.identifier.issn.none.fl_str_mv 2281-9649
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12495/2030
dc.identifier.doi.none.fl_str_mv https://doi.org/10.26326/2281-9649.29.1.1941
dc.identifier.instname.spa.fl_str_mv instname:Universidad El Bosque
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional Universidad El Bosque
dc.identifier.repourl.none.fl_str_mv repourl:https://repositorio.unbosque.edu.co
identifier_str_mv 2281-9649
instname:Universidad El Bosque
reponame:Repositorio Institucional Universidad El Bosque
repourl:https://repositorio.unbosque.edu.co
url https://hdl.handle.net/20.500.12495/2030
https://doi.org/10.26326/2281-9649.29.1.1941
dc.language.iso.none.fl_str_mv eng
language eng
dc.relation.ispartofseries.spa.fl_str_mv European Journal of Pediatric Dermatology, 2281-9649, Vol. 29, Num. 1, 2019, p. 11-15
dc.relation.uri.none.fl_str_mv https://www.ejpd.com/journal/index.php/EJPD/article/view/1941
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.local.spa.fl_str_mv Acceso cerrado
dc.rights.accessrights.none.fl_str_mv https://purl.org/coar/access_right/c_abf199
dc.rights.creativecommons.none.fl_str_mv 2019
rights_invalid_str_mv Acceso cerrado
https://purl.org/coar/access_right/c_abf199
2019
http://purl.org/coar/access_right/c_abf2
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv European Journal of Pediatric Dermatology
dc.publisher.journal.spa.fl_str_mv European Journal of Pediatric Dermatology
institution Universidad El Bosque
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repository.name.fl_str_mv Repositorio Institucional Universidad El Bosque
repository.mail.fl_str_mv bibliotecas@biteca.com
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spelling Macías, M.A.Reina, A.Motta Beltrán, AdrianaTruffello, D.Sepúlveda, A.Motta, Adriana [0000-0002-1924-1256]Motta Beltrán, Adriana [0000-0002-1924-1256]Motta Beltrán, Adriana [0000-0002-1924-1256]2020-03-13T20:52:54Z2020-03-13T20:52:54Z20192281-9649https://hdl.handle.net/20.500.12495/2030https://doi.org/10.26326/2281-9649.29.1.1941instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquerepourl:https://repositorio.unbosque.edu.coapplication/pdfengEuropean Journal of Pediatric DermatologyEuropean Journal of Pediatric DermatologyEuropean Journal of Pediatric Dermatology, 2281-9649, Vol. 29, Num. 1, 2019, p. 11-15https://www.ejpd.com/journal/index.php/EJPD/article/view/1941Alagille syndrome: from the cutaneous to the systemicAlagille syndrome: from the cutaneous to the systemicarticleartículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Manifestaciones cutáneasEnfermedades de los conductos biliaresColestasis intrahepáticaPruritusCholestasisAlagille syndromeHere is reported the case of a girl with Alagille syndrome, in whom the keys to diagnosis were the dermatological manifestations characterized by chronic and persistent pruritus that led us to search for other systemic conditions, confirming the pathology.Acceso cerradohttps://purl.org/coar/access_right/c_abf1992019http://purl.org/coar/access_right/c_abf2LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://pruebas-update-repositorio-unbosque.cloudbiteca.com/bitstreams/872c7c32-4219-4220-9e54-e084e44d2fd7/download8a4605be74aa9ea9d79846c1fba20a33MD52falseAnonymousREAD20.500.12495/2030oai:pruebas-update-repositorio-unbosque.cloudbiteca.com:20.500.12495/20302022-05-06T02:00:28.652Zmetadata.onlyhttps://pruebas-update-repositorio-unbosque.cloudbiteca.comRepositorio Institucional Universidad El Bosquebibliotecas@biteca.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