Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

por Asamoah, Alexander, Wei, Sainan, Jackson, Kelly E., Hersh, Joseph H., Levy, Harvey
Publicado 2021

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

por Huang, Yue, Sharma, Rajesh, Feigenbaum, Annette, Lee, Chung, Sahai, Inderneel, Sanchez Russo, Rossana, Neira, Juanita, Brooks, Susan Sklower, Jackson, Kelly E., Wong, Derek, Cederbaum, Stephen, Lacbawan, Felicitas L., Rowland, Charles M., Tanpaiboon, Pranoot, Salazar, Denise
Publicado 2021

Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

por Lemke, Amy A., Thompson, Michelle L., Gimpel, Emily C., McNamara, Katelyn C., Rich, Carla A., Finnila, Candice R., Cochran, Meagan E., Lawlor, James M. J., East, Kelly M., Bowling, Kevin M., Latner, Donald R., Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Greve, Veronica, Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Hughes, Trent, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C. E., Kirmse, Brian M., Savich, Renate, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M., Brothers, Kyle B.
Publicado 2023