Adultos jovens com deficiência de metilentetrahidrofolato reductasa e aciduria etilenmalónica. Reporte de dois casos e revisão de tema
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Societal impact
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Resumo
A combinação da Aciduria etilmalónica e a homocistinuria são desordens do metabolismo herdados com um amplo espectro de manifestações clínicas que se podem apresentar desde a infância até os adultos maiores. No entanto, com a detecção precose destas doenças, no período neonatal, se teria a oportunidade de melhorar a qualidade de vida dos pacientes afetados.
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Referências
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