Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia

Publication date: Available online 3 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Olivia Wenger, Miraides Brown, Brandon Smith, Devyani Chowdhury, Andrew H. Crosby, Emma L. Baple, Mark Yoder, William Laxen, Silvia Tortorelli, Kevin A. Strauss

Source: Molecular Genetics and Metabolism - October 28, 2020 Category: Genetics & Stem Cells Source Type: research