Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case

Autor: Dobrowolski, Steven F., Alodaib, Ahmad, Karunanidhi, Anuradha, Basu, Shrabini, Holecko, Meghan, Lichter-Konecki, Uta, Pappan, Kirk L., Vockley, Jerry
Zdroj: In Molecular Genetics and Metabolism April 2020 129(4):272-277
Databáze: ScienceDirect