Repository logo
 
Publication

Molecular picture of cobalamin C/D defects before and after newborn screening era

2017-03Journal article Restricted access
Simple item page
dc.contributor.authorNogueira, C.
dc.contributor.authorMarcão, A.
dc.contributor.authorRocha, H.
dc.contributor.authorSousa, C.
dc.contributor.authorFonseca, H.
dc.contributor.authorValongo, C.
dc.contributor.authorVilarinho, L.
dc.date.accessioned2017-05-11T15:21:23Z
dc.date.available2017-05-11T15:21:23Z
dc.date.issued2017-03
dc.description.abstractObjective: Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expanded newborn screening. Methods: Twenty-five Portuguese CblC/D patients, 14 symptomatic and 11 identified through screening, were diagnosed using gas chromatography or tandem mass spectrometry. Molecular characterization was performed through the study of MMACHC and MMADHC genes. Results: The most common MMACHC mutation, c.271dupA, was present in 100% of MMACHC alleles of all CblC screened patients, in contrast with the 61% identified before expanded newborn screening. All studied cases (except one, who presented a CblD deficiency) presented a CblC defect. More CblC late-onset patients were diagnosed before the introduction of newborn screening than in the post newborn screening era, probably because some early onset patients died without a definitive diagnosis. Conclusion: The molecular data found in this cohort contribute to the improvement of screening and diagnosis of Cbl defects and would enable a confirmatory diagnosis of these patients, reducing the need for complex, costly, laborious, and time-consuming biochemical/enzymatic tests.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Med Screen. 2017 Mar;24(1):6-11. doi: 10.1177/0969141316641149. Epub 2016 Jul 7.pt_PT
dc.identifier.doidoi: 10.1177/0969141316641149pt_PT
dc.identifier.issn0969-1413
dc.identifier.urihttp://hdl.handle.net/10400.18/4705
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSAGE Publicationspt_PT
dc.relation.publisherversionhttp://journals.sagepub.com/doi/pdf/10.1177/0969141316641149pt_PT
dc.subjectExpanded Newborn Screeningpt_PT
dc.subjectMMACHCpt_PT
dc.subjectMMADHCpt_PT
dc.subjectVitamin B12pt_PT
dc.subjectBlood Spotspt_PT
dc.subjectCobalaminpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMolecular picture of cobalamin C/D defects before and after newborn screening erapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage11pt_PT
oaire.citation.issue24pt_PT
oaire.citation.startPage6pt_PT
oaire.citation.titleJournal of Medical Screeningpt_PT
oaire.citation.volume1pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
nogueira 2016 (2).pdf
Size:
493.5 KB
Format:
Adobe Portable Document Format
Description:
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DGH - Artigos em revistas internacionais