Maple syrup urine disease in Brazil: a panorama of the last two decades

Maple syrup urine disease in Brazil: a panorama of the last two decades

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Objective: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. Methods: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of MSUD and through contact with other medical gen...

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Main Authors: Silvani Herber, Ida Vanessa D. Schwartz, Tatiéle Nalin, Cristina Brinkmann Oliveira Netto, José Simon Camelo Junior, Mara Lúcia Santos, Erlane Marques Ribeiro, Lavinia Schüler‐Faccini, Carolina Fischinger Moura de Souza
Format: Article
Language:Portuguese
Published: Brazilian Society of Pediatrics 2015-05-01
Series:Jornal de Pediatria (Versão em Português)
Subjects:
Maple syrup urine disease
MSUD
Inborn errors of metabolism
Diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2255553615000373

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http://www.sciencedirect.com/science/article/pii/S2255553615000373

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