Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.
Dobrowolski SF, Alodaib A, Karunanidhi A, Basu S, Holecko M, Lichter-Konecki U, Pappan KL, Vockley J. Mol Genet Metab. 2020 Apr; 129(4):272-277. Epub 2020 Jan 11.