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

38 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Combined malonic and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype'. Together they form a unique fingerprint.

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Agricultural and Biological Sciences