Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Joseph J, Orsini"'
Autor:
Nicole R. Kelly, Joseph J. Orsini, Aaron J. Goldenberg, Niamh S. Mulrooney, Natalie A. Boychuk, Megan J. Clarke, Katrina Paleologos, Monica M. Martin, Hannah McNeight, Michele Caggana, Sean M. Bailey, Lisa R. Eiland, Jaya Ganesh, Gabriel Kupchik, Rishi Lumba, Suhas Nafday, Annemarie Stroustrup, Michael H. Gelb, Melissa P. Wasserstein
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101037- (2024)
The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a
Externí odkaz:
https://doaj.org/article/e79789f150374a1baa1c0b21fce96ad8
Autor:
Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Patricia L. Hall, Joanne Kurtzberg, Joseph J. Orsini
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 10 (2024)
Krabbe disease (KD) is part of newborn screening (NBS) in 11 states with at least one additional state preparing to screen. In July 2021, KD was re-nominated for addition to the federal Recommended Uniform Screening Panel (RUSP) in the USA with a two
Externí odkaz:
https://doaj.org/article/c57784a319b248cd8b099c5cbb233ca0
Autor:
Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Each year, through population-based newborn screening (NBS), 1 in 294 newborns is identified with a condition leading to early treatment and, in some cases, life-saving interventions. Rapid advancements in genomic technologies to screen, diagnose, an
Externí odkaz:
https://doaj.org/article/69e4a7a69f5f45cab99bfe2d9ff3fbdd
Autor:
Melissa A. Parisi, Michele Caggana, Jennifer L. Cohen, Nina B. Gold, Jill A. Morris, Joseph J. Orsini, Tiina K. Urv, Melissa P. Wasserstein
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:44-55
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd1f36ccfa795123c17923c174f349d0
https://doi.org/10.1002/ajmg.c.32036
https://doi.org/10.1002/ajmg.c.32036
Autor:
Julie Lekstrom‐Himes, P J Brooks, Dwight D. Koeberl, Amy Brower, Aaron Goldenberg, Robert C. Green, Jill A. Morris, Joseph J. Orsini, Timothy W. Yu, Erika F. Augustine
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 193:30-43
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a7c271e32f6e5b778a2f0b73435a23b
https://doi.org/10.1002/ajmg.c.32031
https://doi.org/10.1002/ajmg.c.32031
Autor:
Jennifer M. Kwon, Dietrich Matern, Joanne Kurtzberg, Lawrence Wrabetz, Michael H. Gelb, David A. Wenger, Can Ficicioglu, Amy T. Waldman, Barbara K. Burton, Patrick V. Hopkins, Joseph J. Orsini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplanta
Externí odkaz:
https://doaj.org/article/8482e32216114128813a3f96d32230a9
Autor:
Camille S. Corre, Dietrich Matern, Joan E. Pellegrino, Carlos A. Saavedra-Matiz, Joseph J. Orsini, Robert Thompson-Stone
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 28 (2021)
Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later
Externí odkaz:
https://doaj.org/article/b2e625b1690f44cbb0e90cbc2881fb22
Autor:
Alexander D. Rowe, Stephanie D. Stoway, Henrik Åhlman, Vaneet Arora, Michele Caggana, Anna Fornari, Arthur Hagar, Patricia L. Hall, Gregg C. Marquardt, Bobby J. Miller, Christopher Nixon, Andrew P. Norgan, Joseph J. Orsini, Rolf D. Pettersen, Amy L. Piazza, Neil R. Schubauer, Amy C. Smith, Hao Tang, Norma P. Tavakoli, Sainan Wei, Rolf H. Zetterström, Robert J. Currier, Lars Mørkrid, Piero Rinaldo
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 23 (2021)
Newborn screening for congenital hypothyroidism remains challenging decades after broad implementation worldwide. Testing protocols are not uniform in terms of targets (TSH and/or T4) and protocols (parallel vs. sequential testing; one or two specime
Externí odkaz:
https://doaj.org/article/067a1ce7f8054700bd2a9e137d4cc7c0
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 3, p 65 (2020)
New York uses a two-tier assay to screen newborns for Krabbe disease and Pompe disease. Individual enzyme activities are measured in the first-tier, and specimens from newborns with low activity are reflexed to second tier Sanger sequencing of the as
Externí odkaz:
https://doaj.org/article/a9a794f8f35b439aa7f6b492a7a7a587
Autor:
Margie A. Ream, Joanne Kurtzberg, Michael H. Gelb, Jennifer Rubin, Maria L. Escolar, Barbara K. Burton, David A. Wenger, Joseph J. Orsini, Robert Thompson-Stone, Paul A. Levy, Dietrich Matern
Publikováno v:
Molecular Genetics and Metabolism. 134:53-59
Objective To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf64fdb34bec930a6ce62d04ebee09f
https://doi.org/10.1016/j.ymgme.2021.03.016
https://doi.org/10.1016/j.ymgme.2021.03.016