Maple syrup urine disease in Brazil: a panorama of the last two decades
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...
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: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2255553615000373 |
Similar Items
-
Maple Syrup Urine Disease and Cerebral Edema
by: J Gordon Millichap
Published: (1991-09-01) -
Letter to the Editors: Concerning “Hyperleucinosis during infections in maple syrup urine disease post-liver transplantation” by Guilder et al
by: Chika Takano, et al.
Published: (2024-03-01) -
Maple syrup urine disease: mechanisms and management
by: Blackburn PR, et al.
Published: (2017-09-01) -
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination
by: Azza AL Shidhani, et al.
Published: (2023-09-01) -
The Genes Responsible for Maple Syrup Urine Disease, Molecular Pathomechanisms and Causative Mutations in Iranian Population
by: N Gorjizadeh, et al.
Published: (2018-12-01)