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Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening

dc.contributor.authorAlonso Fernández, José R 
dc.date.accessioned2017-11-24T13:43:01Z
dc.date.available2017-11-24T13:43:01Z
dc.date.issued2016-09
dc.identifier.issn2214-4269
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/27570738es
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992010/es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/9950
dc.description.abstractThe standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid.es
dc.language.isoenges
dc.rightsAn error occurred on the license name.*
dc.rights.uriAn error occurred getting the license - uri.*
dc.subject.meshSteroids*
dc.subject.meshFailure to Thrive*
dc.subject.meshNeonatal Screening*
dc.subject.meshGenotype*
dc.titlePregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screeninges
dc.typeArtigoes
dc.rights.holderEl autores
dc.identifier.doi10.1016/j.ymgmr.2016.08.006
dc.identifier.pmid27570738
dc.journal.titleMolecular Genetics and Metabolism Reportses
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Pediatríaes
dc.page.initial99es
dc.page.final102es
dc.relation.publisherversionhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992010/pdf/main.pdfes
dc.rights.accessRightsopenAccesses
dc.subject.decscribado neonatal*
dc.subject.decsgenotipo*
dc.subject.decsesteroides*
dc.subject.decsinsuficiencia de crecimiento*
dc.subject.keywordCribado neonatales
dc.subject.keywordHiperplasia adrenal congénitaes
dc.subject.keywordHiperplasia adrenal conxénitaes
dc.typefidesArtigo Científico (inclue Orixinal, Orixinal breve, Revisión Sistemática e Meta-análisis)es
dc.typesophosArtículo Originales
dc.volume.number8es


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Mol Genet Metab Rep. 2016 Aug 18;8:99-102

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