Genetic and acquired defects of methylmalonic aciduria combined with homocystinuria in Argentine patients. A local experience
Combined methylmalonic aciduria and homocystinuria (MMA/HHCY) is an inborn error of cobalamin metabolism. Patients present with megaloblastic anemia, lethargy, growth-developmental delay, neurological deterioration, and seizures. Although it is considered a disease of infancy or childhood, some indi...
Guardado en:
| Autores principales: | Grosso , CL, Bezard, MB, Angaroni, CL, Becerra, AB, Guelbert, GA, Laróvere , LE, Dodelson de Kremer , R |
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| Formato: | Artículo revista |
| Publicado: |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2022
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| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/39089 |
| Aporte de: |
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