Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

Por Elizabeth O. Stenger, Zoheb Kazi, Emily Lisi, Michael J. Gambello, Priya Kishnani
Publicado em 2015-09-01

The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine

Por Hong Li, Lihua Zhao, Rani Singh, J. Nina Ham, Doris O. Fadoju, Lora J.H. Bean, Yan Zhang, Yong Xu, H. Eric Xu, Michael J. Gambello
Publicado em 2018-12-01

Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

Por Melissa M. Murphy, T. Lindsey Burrell, Joseph F. Cubells, Michael T. Epstein, Roberto Espana, Michael J. Gambello, Katrina Goines, Cheryl Klaiman, Sookyong Koh, Rossana Sanchez Russo, Celine A. Saulnier, Elaine Walker, The Emory 3q29 Project, Jennifer Gladys Mulle
Publicado em 2020-04-01