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Author | dc.contributor.author | Campos Bravo, Paulina Andrea | |
Author | dc.contributor.author | Raimann, Erna | |
Author | dc.contributor.author | Cabello, Juan Francisco | |
Author | dc.contributor.author | Arias, Carolina | |
Author | dc.contributor.author | Peredo, Pilar | |
Author | dc.contributor.author | Olivares Castro, Gabriela | |
Author | dc.contributor.author | Hamilton, Valerie | |
Author | dc.contributor.author | Campo, Karen | |
Author | dc.contributor.author | Cornejo, Verónica | |
Admission date | dc.date.accessioned | 2019-03-18T11:53:32Z | |
Available date | dc.date.available | 2019-03-18T11:53:32Z | |
Publication date | dc.date.issued | 2015 | |
Cita de ítem | dc.identifier.citation | Revista Chilena de Pediatria, Volumen 86, Issue 3, 2018, Pages 214-218 | |
Identifier | dc.identifier.issn | 07176228 | |
Identifier | dc.identifier.issn | 03704106 | |
Identifier | dc.identifier.other | 10.1016/j.rchipe.2015.06.006 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/166656 | |
Abstract | dc.description.abstract | © 2015 Sociedad Chilena de Pediatría.Hyperphenylalaninaemias are defined by a blood phenylalanine over 2 mg/dl. The main cause is due to a mutation in the gene that codes the phenylalanine hydroxylase that catalyses the reaction that converts phenylalanine into tyrosine. The hyperphenylalaninaemias are classified into benign or mild hyperphenylalaninaemias, or mild, moderate or classic phenylketonurias. Due to its delayed detection outside the neonatal period it causes severe mental retardation. Its dlsetection along with congenital hypothyroidism has been part of the National Neonatal Screening Program since 1992 in Chile. This article aims to answer the most common questions asked by the paediatrician when faced with a patient with hyperphenylalaninaemias. | |
Lenguage | dc.language.iso | en | |
Publisher | dc.publisher | Sociedad Chilena de Pediatria | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | Revista Chilena de Pediatria | |
Keywords | dc.subject | Hyperphenylalaninaemia | |
Keywords | dc.subject | Mental retardation | |
Keywords | dc.subject | Phenylalanine hydroxylase | |
Keywords | dc.subject | Screening | |
Título | dc.title | What should the paediatrician know about hyperphenylalaninaemia? ¿Qué debe saber el pediatra de las hiperfenilalaninemias? | |
Document type | dc.type | Artículo de revista | |
dcterms.accessRights | dcterms.accessRights | Acceso Abierto | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile