Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/4697
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dc.contributor.authorHuemer, Martina-
dc.contributor.authorDiodato, Daria-
dc.contributor.authorSchwahn, Bernd-
dc.contributor.authorSchiff, Manuel-
dc.contributor.authorBandeira, Anabela-
dc.contributor.authorBenoist, Jean-Francois-
dc.contributor.authorBurlina, Alberto-
dc.contributor.authorCerone, Roberto-
dc.contributor.authorCouce, Maria L.-
dc.contributor.authorGarcia-Cazorla, Angeles-
dc.contributor.authorla Marca, Giancarlo-
dc.contributor.authorPasquini, Elisabetta-
dc.contributor.authorVilarinho, Laura-
dc.contributor.authorWeisfeld-Adams, James D.-
dc.contributor.authorKožich, Viktor-
dc.contributor.authorBlom, Henk-
dc.contributor.authorBaumgartner, Matthias R.-
dc.contributor.authorDionisi-Vici, Carlo-
dc.date.accessioned2017-03-24T13:03:18Z-
dc.date.available2017-03-24T13:03:18Z-
dc.date.issued2016-11-30-
dc.identifier.citationJ Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30pt_PT
dc.identifier.issn0141-8955-
dc.identifier.urihttp://hdl.handle.net/10400.18/4697-
dc.descriptionPMC Free: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203859/pt_PT
dc.description.abstractBackground: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. Objective: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. Data sources: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach. Key recommendations: We strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.pt_PT
dc.language.isoengpt_PT
dc.publisherSpringer Verlag/ Society for the Study of Inborn Errors of Metabolismpt_PT
dc.rightsopenAccesspt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectRemethylation Disorderspt_PT
dc.subjectRare Inherited Disorderspt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiencypt_PT
dc.typearticlept_PT
dc.peerreviewedyespt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
degois.publication.firstPage21pt_PT
degois.publication.lastPage48pt_PT
degois.publication.issue1pt_PT
degois.publication.titleJournal of Inherited Metabolic Diseasept_PT
degois.publication.volume40pt_PT
dc.relation.publisherversionhttps://link.springer.com/article/10.1007%2Fs10545-016-9991-4pt_PT
dc.identifier.doi10.1007/s10545-016-9991-4pt_PT
Aparece nas colecções:DGH - Artigos em revistas internacionais

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