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

by Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar
Published 2018-06-01

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

by Maria J. Guillen Sacoto, Kimberly A. Chapman, Deneen Heath, Mary Beth Seprish, Dina J. Zand
Published 2015-06-01

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

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

by Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand
Published 2014-01-01

Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

by Amanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, Janet J Mei, Steve Sideris, Yuko Kosaka, Andrew Hinman, Stephanie A Malone, Joel J Bruegger, Leslie Wang, Virna Kim, William D Shrader, Kevin G Hoff, Joey C Latham, Euan A Ashley, Matthew T Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi-Vici, Kimberly A Chapman, Gregory M Enns, William Gahl, Lynne Wolfe, Russell P Saneto, Simon C Johnson, Jeffrey K Trimmer, Matthew B Klein, Charles R Holst
Published 2019-01-01