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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Pubmed ID: 
29307858
Year: 
2018
Month: 
Jan
Citation: 
Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion (2018) PubMed