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...

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Detalles Bibliográficos
Autores principales: Tubili, Flavia, Pochiero, Francesca, Curcio, Maria Rosaria, Procopio, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
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

Internet

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

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