Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany

Maple syrup urine disease (MSUD) is a rare autosomal recessive disorder that causes acute and chronic brain dysfunction because of a neurotoxic effect of the accumulating branched chain amino acids (BCAA) and their corresponding keto acids. Aim of the treatment is a rapid reversal of the neon...

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Bibliographic Details
Main Authors: Eva Simon, Udo Wendel, Peter Schadewaldt
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2005-01-01
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/2674
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