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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center()()

OBJECTIVES: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. METHOD: Observational, cross-sectional, retrospective study. The laboratory records of 1...

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Detalles Bibliográficos
Autores principales: Magalhães, Ana Paula Pereira Scholz de, Burin, Maira Graeff, Souza, Carolina Fischinger Moura de, de Bitencourt, Fernanda Hendges, Sebastião, Fernanda Medeiros, Silva, Thiago Oliveira, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9432258/
https://www.ncbi.nlm.nih.gov/pubmed/31677975
http://dx.doi.org/10.1016/j.jped.2019.05.008