Associated Papers
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Liang L et al.
Orphanet Journal of Rare Diseases, 2021
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F et al.
Molecular Biology Reports, 2019
Inborn errors of cobalamin absorption and metabolism.
Watkins D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Sakamoto O et al.
Journal of Human Genetics, 2007
Methylmalonic and propionic aciduria.
Deodato F et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
Ledley FD et al.
Human Mutation, 1997
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