Prenatal treatment of ornithine transcarbamylase deficiency.

Authors

Yael Wilnai
Yair J Blumenfeld
Kristina Cusmano, George Washington University
Susan R Hintz
Deborah Alcorn
William E Benitz
William E Berquist
Jonathan A Bernstein
Ricardo O Castillo
Waldo Concepcion
Tina M Cowan
Kenneth L Cox
Deirdre J Lyell
Carlos O Esquivel
Margaret Homeyer
Louanne Hudgins
Melissa Hurwitz
Jonathan P Palma
Susan Schelley
Vishnu Priya Akula
Marshall L Summar
Gregory M Enns

Document Type

Journal Article

Publication Date

3-1-2018

Journal

Molecular genetics and metabolism

Volume

123

Issue

3

Inclusive Pages

297-300

DOI

10.1016/j.ymgme.2018.01.004

Keywords

Ammonia; Drug Combinations; Female; Glutamine; Humans; Hyperammonemia; Infant, Newborn; Male; Mutation; Ornithine Carbamoyltransferase; Ornithine Carbamoyltransferase Deficiency Disease; Phenylacetates; Pregnancy; Prenatal Care; Prenatal Diagnosis; Sodium Benzoate; Treatment Outcome; Urea

APA Citation

Wilnai, Y., Blumenfeld, Y., Cusmano, K., Hintz, S., Alcorn, D., Benitz, W., Berquist, W., Bernstein, J., Castillo, R., Concepcion, W., Cowan, T., Cox, K., Lyell, D., Esquivel, C., Homeyer, M., Hudgins, L., Hurwitz, M., Palma, J., Schelley, S., Akula, V., Summar, M., & Enns, G. (2018). Prenatal treatment of ornithine transcarbamylase deficiency.. Molecular genetics and metabolism, 123 (3). http://dx.doi.org/10.1016/j.ymgme.2018.01.004

Peer Reviewed

1