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Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy
BACKGROUND: Methylmalonic acidemia (MMA) is an inborn error of metabolism whose optimal management, especially in the long‐term remains to be established. METHODS: We describe the case of a child with MMA mut (0) who was in a cycle of episodes of decompensation and hospitalization when we started to...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834187/ https://www.ncbi.nlm.nih.gov/pubmed/36331064 http://dx.doi.org/10.1002/mgg3.2073 |