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Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.

Ana Vitoria Barban MarguttiWilson Araújo da Silva JuniorDaniel Fantozzi GarciaGreice Andreotti de MolfettaAdriana Aparecida MarquesTatiana AmorimVânia Mesquita Gadelha PrazeresRaquel Tavares Boy da SilvaIrene Kazue MiuraJoão Seda NetoEmerson de Santana SantosMara Lucia Schmitz Ferreira SantosCharles Marques LourençoTássia TononFernanda Sperb-LudwigCarolina Fischinger Moura de SouzaIda Vanessa Döederlein SchwartzJosé Simon Camelo
Published in: Orphanet journal of rare diseases (2020)
Given that most of the patients received late diagnoses, the study results do not allow us to state that the molecular features of MSUD variant phenotypes are predictive of clinical severity.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • chronic kidney disease
  • prognostic factors
  • patient reported outcomes
  • copy number
  • patient reported