P030: Expanding the differential for 2,3-dihydoxy-2-methylbutyric aciduria

by Annie Niehaus, Shawn Tahata, Tina Cowan, Kristina Cusmano-Ozog
Published 2023-01-01

Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia

by Michael J. Muriello, Sarah Viall, Teodoro Bottiglieri, Kristina Cusmano-Ozog, Carlos R. Ferreira
Published 2017-12-01

Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

by Paul S. Kruszka, Brian Kirmse, Dina J. Zand, Kristina Cusmano-Ozog, Elaine Spector, Johan L. Van Hove, Kimberly A. Chapman
Published 2014-01-01

Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status.

by Gregory M Enns, Tereza Moore, Anthony Le, Kondala Atkuri, Monisha K Shah, Kristina Cusmano-Ozog, Anna-Kaisa Niemi, Tina M Cowan
Published 2014-01-01