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Acute cerebellar ataxia in a patient with maple syrup urine disease: a case report

Introduction: Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, potentially resulting in metabolic intoxication crises accompanied by neurological manifestations. Case report: This article reports a case involving a six-year-old boy with MSUD who developed a post-infectio...

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Autores principales: Carolina Castro, Patrícia Lipari Pinto, Inês Carneiro, Patrícia Janeiro, Joana Coelho, Fátima Furtado, Sofia Quintas, Ana Gaspar
Formato: Artigo
Lenguaje:Inglês
Publicado: Publicaciones Permanyer 2026-01-01
Colección:Portuguese Journal of Pediatrics
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Acceso en línea:https://pjp.spp.pt/frame_eng.php?id=147
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