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
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz B et al.
Turkish Journal of Medical Sciences, 2021
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P et al.
Human Mutation, 2016
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F et al.
Jimd Reports, 2016
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Forny P et al.
Human Mutation, 2014
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
Dündar H et al.
Molecular Genetics and Metabolism, 2012
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