Zobrazeno 1 - 10
of 177
pro vyhledávání: '"George A, Diaz"'
Autor:
Priya N. Marathe, Sabrina A. Suckiel, Katherine E. Bonini, Nicole R. Kelly, Laura Scarimbolo, Beverly J. Insel, Jacqueline A. Odgis, Monisha Sebastin, Michelle A. Ramos, Miranda Di Biase, Katie M. Gallagher, Kaitlyn Brown, Jessica E. Rodriguez, Nicole Yelton, Karla Lopez Aguiñiga, Michelle A. Rodriguez, Estefany Maria, Jessenia Lopez, Randi E. Zinberg, George A. Diaz, John M. Greally, Noura S. Abul-Husn, Laurie J. Bauman, Bruce D. Gelb, Melissa P. Wasserstein, Eimear E. Kenny, Carol R. Horowitz
Publikováno v:
HGG Advances, Vol 5, Iss 3, Pp 100321- (2024)
Summary: There is increasing evidence of the clinical utility of genetic and genomic testing (GT); however, factors influencing personal utility of GT, especially in diverse, multilingual populations, remain unclear. We explored these factors in a di
Externí odkaz:
https://doaj.org/article/d462a943c78e428ea05a8be80988b67b
Autor:
Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, Gregory M. Enns
Publikováno v:
EClinicalMedicine, Vol 68, Iss , Pp 102405- (2024)
Summary: Background: Arginase 1 Deficiency (ARG1-D) is a rare debilitating, progressive, inherited, metabolic disease characterized by marked increases in plasma arginine (pArg) and its metabolites, with increased morbidity, substantial reductions in
Externí odkaz:
https://doaj.org/article/adc9776bffef450085166ec27d071c74
Autor:
Shu-Ching Chang, Gary L Grunkemeier, Jason D Goldman, Mansen Wang, Paul A McKelvey, Jennifer Hadlock, Qi Wei, George A Diaz
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0303899 (2024)
BackgroundThe Pneumonia Score Index (PSI) was developed to estimate the risk of dying within 30 days of presentation for community-acquired pneumonia patients and is a strong predictor of 30-day mortality after COVID-19. However, three of its require
Externí odkaz:
https://doaj.org/article/920e976f00ee4e7388ccf4a61538af87
Autor:
Robin H. Lachmann, George A. Diaz, Melissa P. Wasserstein, Nicole M. Armstrong, Abhimanyu Yarramaneni, Yong Kim, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Enzyme replacement therapy with olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is indicated for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children and adults. An on
Externí odkaz:
https://doaj.org/article/44948c4c23eb4eafbf4f6ef268c87d62
Autor:
Monisha Sebastin, Jacqueline A. Odgis, Sabrina A. Suckiel, Katherine E. Bonini, Miranda Di Biase, Kaitlyn Brown, Priya Marathe, Nicole R. Kelly, Michelle A. Ramos, Jessica E. Rodriguez, Karla López Aguiñiga, Jessenia Lopez, Estefany Maria, Michelle A. Rodriguez, Nicole M. Yelton, Charlotte Cunningham-Rundles, Katie Gallagher, Thomas V. McDonald, Patricia E. McGoldrick, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, Noura S. Abul-Husn, Laurie J. Bauman, George A. Diaz, Bart S. Ferket, John M. Greally, Vaidehi Jobanputra, Bruce D. Gelb, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein
Publikováno v:
Pilot and Feasibility Studies, Vol 9, Iss 1, Pp 1-13 (2023)
Abstract Background The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase acc
Externí odkaz:
https://doaj.org/article/7f48af20b3204a4caf929dd7fb55d159
Autor:
George A. Diaz, Roberto Giugliani, Nathalie Guffon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). We report 2-year cumulative safety and ef
Externí odkaz:
https://doaj.org/article/f4e53439dfaf4da68e483c036ee34ded
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Background Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann–Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niemann–Pick type C (N
Externí odkaz:
https://doaj.org/article/d2c35a3f56014b6ab7050821b0312efc
Autor:
Aseel Bin Sawad, Arti Pothukuchy, Mark Badeaux, Victoria Hodson, Gillian Bubb, Kristina Lindsley, Jennifer Uyei, George A. Diaz
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 330-340 (2022)
Abstract Background Arginase 1 deficiency (ARG1‐D) is a rare, progressive and debilitating urea cycle disorder characterized by clinical manifestations including spasticity, seizures, developmental delay, and intellectual disability. The aim of thi
Externí odkaz:
https://doaj.org/article/49a08f5f92874dddae992949f679d7b7
Autor:
George A. Diaz, Roberto Giugliani, Nathalie Gufon, Simon A. Jones, Eugen Mengel, Maurizio Scarpa, Peter Witters, Abhimanyu Yarramaneni, Jing Li, Nicole M. Armstrong, Yong Kim, Catherine Ortemann-Renon, Monica Kumar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-2 (2023)
Externí odkaz:
https://doaj.org/article/65f7613973fa4218b3015341ebaca0dd
Autor:
Jacqueline A. Odgis, Katie M. Gallagher, Sabrina A. Suckiel, Katherine E. Donohue, Michelle A. Ramos, Nicole R. Kelly, Gabrielle Bertier, Christina Blackburn, Kaitlyn Brown, Lena Fielding, Jessenia Lopez, Karla Lopez Aguiniga, Estefany Maria, Jessica E. Rodriguez, Monisha Sebastin, Nehama Teitelman, Dana Watnick, Nicole M. Yelton, Avinash Abhyankar, Noura S. Abul-Husn, Aaron Baum, Laurie J. Bauman, Jules C. Beal, Toby Bloom, Charlotte Cunningham-Rundles, George A. Diaz, Siobhan Dolan, Bart S. Ferket, Vaidehi Jobanputra, Patricia Kovatch, Thomas V. McDonald, Patricia E. McGoldrick, Rosamond Rhodes, Michael L. Rinke, Mimsie Robinson, Arye Rubinstein, Lisa H. Shulman, Christian Stolte, Steven M. Wolf, Elissa Yozawitz, Randi E. Zinberg, John M. Greally, Bruce D. Gelb, Carol R. Horowitz, Melissa P. Wasserstein, Eimear E. Kenny
Publikováno v:
Trials, Vol 22, Iss 1, Pp 1-6 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/334447b3e3c141bca2619d554c1ef946