Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Didu S. Kariyawasam"'
Autor:
Charli Ji, Didu S. Kariyawasam, Hugo Sampaio, Michelle Lorentzos, Kristi J. Jones, Michelle A. Farrar
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 45, Iss , Pp 101049- (2024)
Summary: Background: The rapidly evolving clinical landscape of Duchenne muscular dystrophy (DMD) is driving innovative approaches for early diagnosis through genomic newborn bloodspot screening (NBS). However, the potential impact of these programs
Externí odkaz:
https://doaj.org/article/21a891f9e9a543218bb85a7c1c00eb1a
Autor:
Michelle A. Farrar, Loudella Calotes-Castillo, Ranil De Silva, Peter Barclay, Lani Attwood, Julie Cini, Monica Ferrie, Didu S. Kariyawasam
Publikováno v:
Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-11 (2023)
Abstract Onasemnogene abeparvovec has been life-changing for children with spinal muscular atrophy (SMA), signifying the potential and progress occurring in gene- and cell-based therapies for rare genetic diseases. Hence, it is important that clinici
Externí odkaz:
https://doaj.org/article/7ff92684f8d54270a393e3593777febc
Autor:
Didu S Kariyawasam, Arlene M D'Silva, Hugo Sampaio, Nancy Briggs, Karen Herbert, Veronica Wiley, Michelle A Farrar
Publikováno v:
The Lancet Child & Adolescent Health. 7:159-170
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27c120bb82e0033af9d76e7ef8be0dd1
https://doi.org/10.1016/s2352-4642(22)00342-x
https://doi.org/10.1016/s2352-4642(22)00342-x
Publikováno v:
Expert Review of Neurotherapeutics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79a85db10d0b0b4db3e58bbe043fdd07
https://doi.org/10.1080/14737175.2023.2218549
https://doi.org/10.1080/14737175.2023.2218549
Publikováno v:
Brain.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e64cab7c1ba9454093d467365affca89
https://doi.org/10.1093/brain/awad061
https://doi.org/10.1093/brain/awad061
Autor:
Didu S Kariyawasam, Joanne Scarfe, Christian Meagher, Michelle A Farrar, Kaustav Bhattacharya, Stacy M Carter, Ainsley J Newson, Margaret Otlowski, Jo Watson, Nicole Millis, Sarah Norris
Publikováno v:
PLoS ONE, Vol 19, Iss 3, p e0299336 (2024)
BackgroundNewborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively
Externí odkaz:
https://doaj.org/article/c35ba539296042aea643c2165c6bbe3f