Associated Papers
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Manoli I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.
Sakamoto O et al.
Journal of Human Genetics, 2007
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
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
Ledley FD et al.
Human Mutation, 1997
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