Associated Papers
Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.
Guertin A et al.
Molecular Genetics and Metabolism Reports, 2025
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Nizon M et al.
Orphanet Journal of Rare Diseases, 2013
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
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.
Acquaviva C et al.
European Journal of Human Genetics : Ejhg, 2001
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