Rezultaty - Leslie, Nancy

Review of the use of idursulfase in the treatment of mucopolysaccharidosis II od Burrow, T Andrew, Leslie, Nancy D

Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Prolonged QTc Interval in Association With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency od Wiles, Jason R., Leslie, Nancy, Knilans, Timothy K., Akinbi, Henry

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening od Crossen, Kaylee, Berry, Lisa, Myers, Melanie F., Leslie, Nancy, Goueli, Cecilia

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

MEVALONATE KINASE DEFICIENCY ASSOCIATED WITH RECURRENT LIVER DYSFUNCTION, MACROPHAGE ACTIVATION SYNDROME AND PERFORIN GENE POLYMORPHISM od Schulert, Grant S., Bove, Kevin, McMasters, Richard, Campbell, Kathleen, Leslie, Nancy, Grom, Alexei A.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Inborn Errors of Metabolism Collaborative (IBEMC): Large scale data collection about long-term follow-up for newborn-screened conditions od Berry, Susan A., Leslie, Nancy D., Edick, Mathew J., Hiner, Sally, Justice, Kaitlin, Cameron, Cynthia

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Prolactin Signaling through the Short Form of Its Receptor Represses Forkhead Transcription Factor FOXO3 and Its Target Gene Galt Causing a Severe Ovarian Defect od Halperin, Julia, Devi, Sangeeta Y., Elizur, Shai, Stocco, Carlos, Shehu, Aurora, Rebourcet, Diane, Unterman, Terry G., Leslie, Nancy D., Le, Jamie, Binart, Nadine, Gibori, Geula

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database od Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Vockley, Cate Walsh, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A, Arnold, Georgianne L, Vockley, Jerry

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

A Novel Variant of ATP5MC3 associated with both dystonia and spastic paraplegia od Neilson, Derek E., Zech, Michael, Hufnagel, Robert B., Slone, Jesse, Wang, Xinjian, Homan, Shelli, Gutzwiller, Lisa M., Leslie, Elizabeth J., Leslie, Nancy D., Xiao, Jianfeng, Hedera, Peter, LeDoux, Mark S., Gebelein, Brian, Wilbert, Friederike, Eckenweiler, Matthias, Winkelmann, Juliane, Gilbert, Donald L., Huang, Taosheng

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Early Treatment with Alglucosidase Alfa Prolongs Long Term Survival of Infants with Pompe Disease od Kishnani, Priya S., Corzo, Deya, Leslie, Nancy D., Gruskin, Daniel, van der Ploeg, Ans, Clancy, John P., Parini, Rosella, Morin, Gilles, Beck, Michael, Bauer, Mislen S., Jokic, Mikael, Tsai, Chen-En, Tsai, Brian W.H., Morgan, Claire, O’Meara, Tara, Richards, Susan, Tsao, Elisa C., Mandel, Hanna

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes od Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie, Nancy, Longo, Nicola, Morris, Andrew A. M., Ramirez-Farias, Carlett, Schweitzer-Krantz, Susanne, Silao, Catherine Lynn T., Vela-Amieva, Marcela, Waisbren, Susan, Fridovich-Keil, Judith L.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

Participant choices for return of genomic results in the eMERGE Network od Hoell, Christin, Wynn, Julia, Rasmussen, Luke V., Marsolo, Keith, Aufox, Sharon A., Chung, Wendy K., Connolly, John J., Freimuth, Robert R., Kochan, David, Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Kullo, Iftikhar J., Lammers, Philip E., Leppig, Kathleen A., Leslie, Nancy D., Myers, Melanie F., Sharp, Richard R., Smith, Maureen E., Prows, Cynthia A.

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe

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

Dokumenty pełnotekstowe Dokumenty pełnotekstowe Dokumenty pełnotekstowe