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Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.

Molecular genetics & genomic medicine - 1 Apr 2021

Gabriel Marie Cosette, Rice Stephanie M, Sloan Jennifer L, Mossayebi Matthew H, Venditti Charles P, Al-Kouatly Huda B

Abstract excerpt

BACKGROUND: Expanded carrier screening (ECS) utilizes high-throughput next-generation sequencing to evaluate an individual's carrier status for multiple conditions. Combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency is a rare inherited disease included in such screening panels. Some cases have been reported with metabolic symptoms in childhood yet other cases describe a benign clinical...

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PMID: 33625768
DOI: 10.1002/mgg3.1621
PMCID: PMC8123733

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