Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Katherine Ackerman Porter"'
Autor:
Katherine Ackerman Porter, Cara O’Neill, Elise Drake, Sara M. Andrews, Kathleen Delaney, Samantha Parker, Maria L. Escolar, Stacey Montgomery, William Moon, Carolyn Worrall, Holly L. Peay
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 6, Iss 1, Pp 1-12 (2022)
Abstract Objectives Sanfilippo syndrome is a rare multisystem disease with no approved treatments. This study explores caregiver perspectives on the most impactful symptoms and patient-relevant clinical outcomes assessments. The pediatric onset and p
Externí odkaz:
https://doaj.org/article/ae56ed7f892f4212ac3481457de0cd0e
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background and objectives Projections that 60 transformative cell and gene therapies could be approved by the U.S. Food and Drug Administration (FDA) within 10 years underscore an urgent need to modernize the newborn screening (NBS) system.
Externí odkaz:
https://doaj.org/article/b3ab35b01acc4dad851e03e89fe3da4f
Autor:
Holly L. Peay, Angela You Gwaltney, Rebecca Moultrie, Heidi Cope, Beth Lincoln‐ Boyea, Katherine Ackerman Porter, Martin Duparc, Amir A. Alexander, Barbara B. Biesecker, Aminah Isiaq, Jennifer Check, Lisa Gehtland, Donald B. Bailey, Nancy M. P. King
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
A challenge in implementing population-based DNA screening is providing sufficient information, that is, understandable and acceptable, and that supports informed decision making. Early Check is an expanded newborn screening study offered to mothers/
Externí odkaz:
https://doaj.org/article/af819cd8ed5443768ac382dd091662d9
Autor:
Donald B. Bailey, Lisa M. Gehtland, Megan A. Lewis, Holly Peay, Melissa Raspa, Scott M. Shone, Jennifer L. Taylor, Anne C. Wheeler, Michael Cotten, Nancy M. P. King, Cynthia M. Powell, Barbara Biesecker, Christine E. Bishop, Beth Lincoln Boyea, Martin Duparc, Blake A. Harper, Alex R. Kemper, Stacey N. Lee, Rebecca Moultrie, Katherine C. Okoniewski, Ryan S. Paquin, Denise Pettit, Katherine Ackerman Porter, Scott J. Zimmerman
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-13 (2019)
Abstract Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the su
Externí odkaz:
https://doaj.org/article/0625bee4ff0c424ebc1da87746aeb6c9
Autor:
Heidi Cope, Beth Lincoln‐Boyea, Angela You Gwaltney, Barbara B. Biesecker, Rebecca Moultrie, Amir A. Alexander, Nancy M. P. King, Jennifer Check, Allyson Corbo, Janice Tzeng, Katherine Ackerman Porter, Holly L. Peay
Publikováno v:
Clinical Genetics. 103:672-680
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a7e5907c002d3ef70720b253ac939aaf
https://doi.org/10.1111/cge.14325
https://doi.org/10.1111/cge.14325
Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment
Autor:
Maria L. Escolar, Katherine Ackerman Porter, Cara O'Neill, Samantha Parker, William Moon, Holly L. Peay, Stacey Montgomery, Elise Drake, Carolyn Worrall
Publikováno v:
Neurology and Therapy
Introduction Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting cognitive ability, mobility, behavior, and quality of life. Currently there are no approved therapies for this severe life-limiting disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db8595a6f889fe439aa77759e9f8539
http://europepmc.org/articles/PMC8139994
http://europepmc.org/articles/PMC8139994
Autor:
Katherine Ackerman Porter, Cara O’Neill, Elise Drake, Sara M. Andrews, Kathleen Delaney, Samantha Parker, Maria L. Escolar, Stacey Montgomery, William Moon, Carolyn Worrall, Holly L. Peay
Publikováno v:
Journal of patient-reported outcomes. 6(1)
Objectives Sanfilippo syndrome is a rare multisystem disease with no approved treatments. This study explores caregiver perspectives on the most impactful symptoms and patient-relevant clinical outcomes assessments. The pediatric onset and progressiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e433b23247ecd495fa091a63f46513
https://pubmed.ncbi.nlm.nih.gov/35467223
https://pubmed.ncbi.nlm.nih.gov/35467223
Autor:
Alissa Huston, Molly Lynch, Brian Fitzek, Katherine Ackerman Porter, Holly L. Peay, Angela Gwaltney, John G Boyle, Melissa Raspa, Linda Squiers
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Frontiers in Immunology
Frontiers in Immunology
Background: Now that severe combined immune deficiency (SCID) has been added to newborn screening panels in all 50 states in the U.S., there is a need to develop and disseminate well-designed educational materials to parents who need information to m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1381b54b973fb8e0b0080812196cd3
https://www.frontiersin.org/article/10.3389/fimmu.2020.00885/full
https://www.frontiersin.org/article/10.3389/fimmu.2020.00885/full
Publikováno v:
Value in Health. 24:S143
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c631ae065654ca77cd7356220eea1b2
https://doi.org/10.1016/j.jval.2021.04.703
https://doi.org/10.1016/j.jval.2021.04.703
Autor:
Michael Goodman, Thomas M. Johnson, Philip Keiser, Katherine Ackerman Porter, Stanley Gitari, Shannon Guillot-Wright
Publikováno v:
Quality of Life Research. 26:1551-1559
Currently, 2.5 million orphaned children are living in Kenya and 56 million orphaned children are living across sub-Saharan Africa. No empirical research has investigated meaningfulness of life among this population, and few studies provide perspecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7770fee956c51c26f60dcf8bbbba1eb
https://doi.org/10.1007/s11136-017-1511-y
https://doi.org/10.1007/s11136-017-1511-y