Combined malonic and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Ahmed Alfares, Laura Dempsey Nunez, Khalid Al-Thihli, John Mitchell, Serge Melançon, Natascia Anastasio, Kevin C H Ha, Jacek Majewski, David S. Rosenblatt, Nancy Braverman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

31 Citations (Scopus)

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Medicine & Life Sciences