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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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The Korean Academy of Medical Sciences
2023
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| 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 |