Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study

by Afrouz A. Anderson, Andrea Gropman, Cynthia Le Mons, Constantine A. Stratakis, Amir H. Gandjbakhche
Published 2020-08-01

Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives

by Oleg A. Shchelochkov, Klara Dickinson, Bruce F. Scharschmidt, Brendan Lee, Miguel Marino, Cynthia Le Mons
Published 2016-09-01

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

by Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons
Published 2021-03-01

Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate

by Debra Hook, George A. Diaz, Brendan Lee, James Bartley, Nicola Longo, William Berquist, Cynthia Le Mons, Ingrid Rudolph-Angelich, Marty Porter, Bruce F. Scharschmidt, Masoud Mokhtarani
Published 2016-03-01