Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report

Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids. A 52-day-old infant with a fever and a history of possible meningitis during the neon...

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Detalles Bibliográficos
Autores principales: Lee, Joon Kee, Oh, Arum
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659923/
https://www.ncbi.nlm.nih.gov/pubmed/37987109
http://dx.doi.org/10.3346/jkms.2023.38.e387

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659923/
https://www.ncbi.nlm.nih.gov/pubmed/37987109
http://dx.doi.org/10.3346/jkms.2023.38.e387

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