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Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses

2021-03Journal article Open access
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dc.contributor.authorFerreira, F
dc.contributor.authorAzevedo, L
dc.contributor.authorNeiva, R
dc.contributor.authorSousa, C
dc.contributor.authorFonseca, H
dc.contributor.authorMarcão, A
dc.contributor.authorRocha, H
dc.contributor.authorCarmona, C
dc.contributor.authorRamos, S
dc.contributor.authorBandeira, A
dc.contributor.authorMartins, E
dc.contributor.authorCampos, T
dc.contributor.authorRodrigues, E
dc.contributor.authorGarcia, P
dc.contributor.authorDiogo, L
dc.contributor.authorFerreira, AC
dc.contributor.authorSequeira, S
dc.contributor.authorSilva, F
dc.contributor.authorRodrigues, L
dc.contributor.authorGaspar, A
dc.contributor.authorJaneiro, P
dc.contributor.authorAmorim, A
dc.contributor.authorVilarinho, L
dc.date.accessioned2021-05-27T08:13:11Z
dc.date.available2021-05-27T08:13:11Z
dc.date.issued2021-03
dc.description.abstractThe 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMol Genet Genomic Med . 2021 Mar;9(3):e1559pt_PT
dc.identifier.doi10.1002/mgg3.1559pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3707
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectPhenylketonuriapt_PT
dc.subjectBiochemicalpt_PT
dc.subjectGenetic Findingspt_PT
dc.subjectHaplotypic Studypt_PT
dc.subjectMutation Spectrumpt_PT
dc.subjectPortugalpt_PT
dc.subjectHDE MTBpt_PT
dc.titlePhenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analysespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue3pt_PT
oaire.citation.startPagee1559pt_PT
oaire.citation.titleMolecular genetics & genomic medicinept_PT
oaire.citation.volume9pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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