Review of the use of idursulfase in the treatment of mucopolysaccharidosis II

por Burrow, T Andrew, Leslie, Nancy D
Publicado 2008

A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening

por Crossen, Kaylee, Berry, Lisa, Myers, Melanie F., Leslie, Nancy, Goueli, Cecilia
Publicado 2022

Inborn Errors of Metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions

por Berry, Susan A., Leslie, Nancy D., Edick, Mathew J., Hiner, Sally, Justice, Kaitlin, Cameron, Cynthia
Publicado 2016

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center

por Baker, Elizabeth K., Ulm, Elizabeth A., Belonis, Alyce, Brightman, Diana S., Hallinan, Barbara E., Leslie, Nancy D., Miethke, Alexander G., Vawter-Lee, Marissa, Wu, Yaning, Pena, Loren D. M.
Publicado 2022

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

por Duong, Tina, Kishnani, Priya S., An Haack, Kristina, Foster, Meredith C., Gibson, James B., Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D., Peña, Loren D.M., Sparks, Susan E., Stockton, David W., Tanpaiboon, Pranoot, Day, John W.
Publicado 2022

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

por Reuser, Arnold J. J., van der Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites
Publicado 2019

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

por Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn
Publicado 2019

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

por Fossey, Robyn, Kochan, David, Winkler, Erin, Pacyna, Joel E., Olson, Janet, Thibodeau, Stephen, Connolly, John J., Harr, Margaret, Behr, Meckenzie A., Prows, Cynthia A., Cobb, Beth, Myers, Melanie F., Leslie, Nancy D., Namjou-Khales, Bahram, Milo Rasouly, Hila, Wynn, Julia, Fedotov, Alexander, Chung, Wendy K., Gharavi, Ali, Williams, Janet L., Pais, Lynn, Holm, Ingrid, Aufox, Sharon, Smith, Maureen E., Scrol, Aaron, Leppig, Kathleen, Jarvik, Gail P., Wiesner, Georgia L., Li, Rongling, Stroud, Mary, Smoller, Jordan W., Sharp, Richard R., Kullo, Iftikhar J.
Publicado 2018