Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Por Chapman, Kimberly A., Gramer, Gwendolyn, Viall, Sarah, Summar, Marshall L.
Publicado no Mol Genet Metab Rep (2018)

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia

Por Muriello, Michael J., Viall, Sarah, Bottiglieri, Teodoro, Cusmano-Ozog, Kristina, Ferreira, Carlos R.
Publicado no Mol Genet Metab Rep (2017)