High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

van Scherpenzeel, Monique; Steenbergen, Gerry; Morava, Eva; Wevers, Ron A; Lefeber, Dirk J

van Scherpenzeel, Monique; Steenbergen, Gerry; Morava, Eva; Wevers, Ron A; Lefeber, Dirk J.

Afiliação

van Scherpenzeel M; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: monique.vanscherpenzeel@radboudumc.nl.
Steenbergen G; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Morava E; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatrics, Hayward Genetics Center, Tulane University Medical School, New Orleans, La.
Wevers RA; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.
Lefeber DJ; Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

Transl Res ; 166(6): 639-649.e1, 2015 Dec.

Article em En | MEDLINE | ID: mdl-26307094

Assuntos

Defeitos Congênitos da Glicosilação/diagnóstico; Espectrometria de Massas/métodos; Transferrina/análise; Defeitos Congênitos da Glicosilação/classificação; Humanos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Espectrometria de Massas / Transferrina / Defeitos Congênitos da Glicosilação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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