Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Amy Kritzer"'
Autor:
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a
Externí odkaz:
https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770
Autor:
Pankaj Agrawal, Vineet Bhandari, Casie A Genetti, Margaret Parker, Timothy Yu, Lawrence Rhein, Jessica Douglas, Bharati Sinha, Pankaj B Agrawal, Alissa M D'Gama, Sonia Hills, Vanessa Young, Monica H Wojcik, Henry A Feldman, Timothy W Yu, Margaret G Parker, Tyler Allcroft, Luis Cantu, Alissa M D’Gama, Dynio Honrubia, Amy Kritzer, Robert Rothstein, Odalys Salinas, Andres Santana, Anyssa Serna, Faye Shapiro, Anjana Bhami Shenoy, Lindsey Simoncini, Aubrie Soucy Verran, Anéya Sousa, Qifei Li, Catherine Brownstein, Klaus Schmitz-Abe, Marione Tamase Newsam
Publikováno v:
BMJ Open, Vol 14, Iss 2 (2024)
Introduction Rapid genomic sequencing (rGS) in critically ill infants with suspected genetic disorders has high diagnostic and clinical utility. However, rGS has primarily been available at large referral centres with the resources and expertise to o
Externí odkaz:
https://doaj.org/article/78ff633befbb42318bff4b3af4e76c91
Autor:
Christina Grassie, Aishwarya Siddharth, Emma Michl, Stephanie Sacharow, Amy Kritzer, Olaf Bodamer, Roy Peake, Patricia Hall, Dietrich Matern, Suzette Huguenin, Marzia Pasquali, Laura Pollard
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100011- (2023)
Externí odkaz:
https://doaj.org/article/a55ab33535b647b199fdf6a6a1f06970
Autor:
Erru Yang, Eliza Kruger, Kathleen Deering, David Yin, Kieran Mace, Noelle Liao, Meghan Tierney, Emily Cibelli, Dan Drozd, Nathan Ross, Peter Herout, Alicia Shillington, Nina Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100051- (2023)
Externí odkaz:
https://doaj.org/article/70de10e7350b47cdb9a70f811597fd10
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100938- (2022)
Pegvaliase, an injectable form of phenylalanine ammonia lyase, is an enzyme substitution therapy for adults with phenylketonuria (PKU). Experience with pegvaliase during lactation is scarce. Limited evidence suggests that pegvaliase does not pass int
Externí odkaz:
https://doaj.org/article/86267150f7ca4b659d29d53d6683e02a
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 44-50 (2020)
Abstract The focus of dietary therapy for long chain fatty acid oxidation disorders (LC‐FAODs) is to minimize fatty acid oxidation by avoiding fasting and providing sufficient calories. Dietary therapy involves restriction of long‐chain triglycer
Externí odkaz:
https://doaj.org/article/fb6f4c1a4675446192b65214b7a4b426
Autor:
Stephanie Sacharow, Cassandra Papaleo, Kyla Almeida, Benjamin Goodlett, Amy Kritzer, Harvey Levy, Leslie Martell, Ann Wessel, Krista Viau
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100603- (2020)
We present Boston Children's Hospital's clinic model for pegvaliase therapy in adults with phenylketonuria (PKU) and clinical outcomes in 46 patients over the first 1.5 years of commercial therapy. Approximately 70% (18/26) of patients starting pegva
Externí odkaz:
https://doaj.org/article/4ebcdaa20de149dd8003c48b8f2d9596
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 22, Iss , Pp - (2020)
Externí odkaz:
https://doaj.org/article/5d60471afe104b719648495c071bf4ff
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated
Externí odkaz:
https://doaj.org/article/4d4abaddf4054df7aa259f5fd86ce70b
Autor:
Monica H. Wojcik, Mairead Bresnahan, Maya C. del Rosario, Mayra Martinez Ojeda, Amy Kritzer, Yarden S. Fraiman
Publikováno v:
Pediatric Research. 93:110-117