An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

by Guillen Sacoto, Maria J., Chapman, Kimberly A., Heath, Deneen, Seprish, Mary Beth, Zand, Dina J.
Published 2015

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

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

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

by Fraser, Jamie L., Vanderver, Adeline, Yang, Sandra, Chang, Taeun, Cramp, Laura, Vezina, Gilbert, Lichter-Konecki, Uta, Cusmano-Ozog, Kristina P., Smpokou, Patroula, Chapman, Kimberly A., Zand, Dina J.
Published 2014