Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/3707 |
Resumo: | The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. |
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Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic AnalysesPhenylketonuriaBiochemicalGenetic FindingsHaplotypic StudyMutation SpectrumPortugalHDE MTBThe impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease.WileyRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEFerreira, FAzevedo, LNeiva, RSousa, CFonseca, HMarcão, ARocha, HCarmona, CRamos, SBandeira, AMartins, ECampos, TRodrigues, EGarcia, PDiogo, LFerreira, ACSequeira, SSilva, FRodrigues, LGaspar, AJaneiro, PAmorim, AVilarinho, L2021-05-27T08:13:11Z2021-032021-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3707engMol Genet Genomic Med . 2021 Mar;9(3):e155910.1002/mgg3.1559info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:44:01Zoai:repositorio.chlc.min-saude.pt:10400.17/3707Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:21:01.161398Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
title |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
spellingShingle |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses Ferreira, F Phenylketonuria Biochemical Genetic Findings Haplotypic Study Mutation Spectrum Portugal HDE MTB |
title_short |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
title_full |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
title_fullStr |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
title_full_unstemmed |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
title_sort |
Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses |
author |
Ferreira, F |
author_facet |
Ferreira, F Azevedo, L Neiva, R Sousa, C Fonseca, H Marcão, A Rocha, H Carmona, C Ramos, S Bandeira, A Martins, E Campos, T Rodrigues, E Garcia, P Diogo, L Ferreira, AC Sequeira, S Silva, F Rodrigues, L Gaspar, A Janeiro, P Amorim, A Vilarinho, L |
author_role |
author |
author2 |
Azevedo, L Neiva, R Sousa, C Fonseca, H Marcão, A Rocha, H Carmona, C Ramos, S Bandeira, A Martins, E Campos, T Rodrigues, E Garcia, P Diogo, L Ferreira, AC Sequeira, S Silva, F Rodrigues, L Gaspar, A Janeiro, P Amorim, A Vilarinho, L |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Ferreira, F Azevedo, L Neiva, R Sousa, C Fonseca, H Marcão, A Rocha, H Carmona, C Ramos, S Bandeira, A Martins, E Campos, T Rodrigues, E Garcia, P Diogo, L Ferreira, AC Sequeira, S Silva, F Rodrigues, L Gaspar, A Janeiro, P Amorim, A Vilarinho, L |
dc.subject.por.fl_str_mv |
Phenylketonuria Biochemical Genetic Findings Haplotypic Study Mutation Spectrum Portugal HDE MTB |
topic |
Phenylketonuria Biochemical Genetic Findings Haplotypic Study Mutation Spectrum Portugal HDE MTB |
description |
The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-05-27T08:13:11Z 2021-03 2021-03-01T00:00:00Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/3707 |
url |
http://hdl.handle.net/10400.17/3707 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Mol Genet Genomic Med . 2021 Mar;9(3):e1559 10.1002/mgg3.1559 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Wiley |
publisher.none.fl_str_mv |
Wiley |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
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1799131306497409024 |