Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Heather G, Mack"'
Autor:
Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G. Mack, Lisa S. Kearns, Aamira J. Huq, Jonathan B. Ruddle, David A. Mackey, Alex W. Hewitt, Thomas L. Edwards, Lauren N. Ayton
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed
Externí odkaz:
https://doaj.org/article/c77e2b459ac246a794c86c5b38e23017
Autor:
Alexis Ceecee Britten-Jones, Demi Markakis, Robyn H. Guymer, Ming-Lee Lin, Simon Skalicky, Lauren N. Ayton, Heather G. Mack
Publikováno v:
Annals of Medicine, Vol 55, Iss 2 (2023)
AbstractPurpose Accurate diagnosis of macular atrophy is paramount to enable appropriate treatment when novel treatments for geographic atrophy and macular dystrophies become available. Genetic testing is useful in distinguishing between the two cond
Externí odkaz:
https://doaj.org/article/4412ff98cde247379b30df36216589e2
Publikováno v:
Annals of Global Health, Vol 88, Iss 1 (2022)
In 2013 the Royal Australian and New Zealand College of Ophthalmologists partnered with the Cambodian Ophthalmological Society (COS) to develop a continuing professional development program for COS using a college-college twinning model. The program
Externí odkaz:
https://doaj.org/article/45f6d4f412444bddb8c32c10696d9a04
Autor:
Fred K Chen, Alex W Hewitt, Alan Ma, John Grigg, Keith R Martin, Robyn Jamieson, Heather G Mack, Fleur O’Hare, David Mackey, John De Roach, Alexis Ceecee Britten-Jones, Myra McGuinness, Nicole Tindill, Lauren Ayton, Anai Gonzalez Cordero, Thomas L Edwards, Gladys Ho, Michael Hogden, Anthony Kwan, Tina Lamey, Terri McLaren, Benjamin Nash, Jon Ruddle, Matthew Simunovic, Ingrid Sinnerbrink, Deepa Ajay Taranath, Jen Thompson, Jaclyn White
Publikováno v:
BMJ Open, Vol 11, Iss 6 (2021)
Introduction Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the RPE65 gene, a rare cause of congenital and adult-onset retinal dystrop
Externí odkaz:
https://doaj.org/article/748c300353da46cfad1dfa7d7e12385a
Publikováno v:
BMJ Neurology Open, Vol 2, Iss 1 (2020)
Background The syndrome of Headache and focal Neurological Deficits with cerebrospinal fluid Lymphocytosis (HaNDL) is considered a rare, idiopathic and self-limited condition.Methods We present a patient with HaNDL who had unique findings of florid o
Externí odkaz:
https://doaj.org/article/d1aea292a2ab4cb78c97a51accd6bf74
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 9, Iss C, Pp 1-6 (2018)
Purpose: To report retinal findings in two patients with mucopolysaccharidosis type I (MPS I) receiving human recombinant alpha-l-iduronidase (Laronidase) as enzyme replacement therapy. Observations: Patient 1 had visual acuity 20/20 right eye, 20/25
Externí odkaz:
https://doaj.org/article/f9ebc8a62dfe420b8cb673f69487828d
Autor:
Dongmao Wang, Paul Trevillian, Stephen May, Peter Diakumis, Yanyan Wang, Deb Colville, Melanie Bahlo, Una Greferath, Erica Fletcher, Barbara Young, Heather G. Mack, Judy Savige
Publikováno v:
Ophthalmic Genetics. 44:19-27
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a2ba45ce91ad40285bc0d26c437bd579
https://doi.org/10.1080/13816810.2022.2144900
https://doi.org/10.1080/13816810.2022.2144900
Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia
Autor:
Heather G. Mack, Alexis Ceecee Britten-Jones, Myra B. McGuinness, Fred K. Chen, John R. Grigg, Robyn V. Jamieson, Thomas L. Edwards, John De Roach, Fleur O’Hare, Keith R. Martin, Lauren N. Ayton
Publikováno v:
Gene Therapy. 30:336-346
Many gene therapies are in development for treating people with inherited retinal diseases (IRD). We hypothesized that potential recipients of gene therapy would have knowledge gaps regarding treatment. We aimed to assess knowledge, attitudes, and pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::948216fe43ce929e26a5e2c099b66056
https://doi.org/10.1038/s41434-022-00364-z
https://doi.org/10.1038/s41434-022-00364-z
Autor:
Jessica L. Fairley, Mandana Nikpour, Heather G. Mack, Maria Brosnan, Amanda M. Saracino, Marc Pellegrini, Ian P. Wicks
Publikováno v:
Internal Medicine Journal. 53:311-317
Hydroxychloroquine (HCQ) and its close relative chloroquine (CQ) were initially used as antimalarial agents but are now widely prescribed in rheumatology, dermatology and immunology for the management of autoimmune diseases. HCQ is considered to have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a492dec619fc8284b8c94a1ce7c9979d
https://doi.org/10.1111/imj.15908
https://doi.org/10.1111/imj.15908
Publikováno v:
Ophthalmic Genetics. 43:693-698
To describe and compare the systemic and ocular findings in two siblings with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome), one treated with recombinant galsulfase, and one who was untreated.One female patient aged 33 years (case 1) who ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a09d4d48011e9c51cc2b50fcf6ee337
https://doi.org/10.1080/13816810.2022.2083184
https://doi.org/10.1080/13816810.2022.2083184