Diagnosis and Management of Classical Homocystinuria in Brazil

Diagnosis and Management of Classical Homocystinuria in Brazil

This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; an...

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Main Authors: Soraia Poloni PhD, Giovana W. Hoss MD, Fernanda Sperb-Ludwig PhD, Taciane Borsatto PhD, Maria Juliana R. Doriqui MD, Emília K.E.A Leão PhD, Ney Boa-Sorte PhD, Charles M. Lourenço PhD, Chong A. Kim PhD, Carolina F. M. de Souza PhD, Helio Rocha MD, Marcia Ribeiro PhD, Carlos E. Steiner PhD, Carolina A. Moreno PhD, Pricila Bernardi MD, Eugenia Valadares PhD, Osvaldo Artigalas MD, Gerson Carvalho MD, Hector Y. C. Wanderley MD, Vânia D’Almeida PhD, Luiz C. Santana-da-Silva PhD, Henk J. Blom PhD, Ida V. D. Schwartz PhD
Format: Article
Language:English
Published: SciELO 2018-08-01
Series:Journal of Inborn Errors of Metabolism and Screening
Online Access:https://doi.org/10.1177/2326409818788900

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https://doi.org/10.1177/2326409818788900

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