Associated Papers
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
36717752 (PubMed )
Supplement: 42255_2022_720_MOESM1_ESM.pdf
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F et al.
Molecular Biology Reports, 2019
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Acquaviva C et al.
Human Mutation, 2005
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
Berger I et al.
Molecular Genetics and Metabolism, 2001
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