Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Alison Sheerin"'
Autor:
Karolina M. Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O’Byrne
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Mucopolysaccharidosis type IH (MPS IH) is caused by homozygous IDUA gene pathogenic variants. This results in deficiency of the enzyme α-L-iduronidase (IDUA), which is necessary for the degradation of glycosaminoglycans (GAGs). This study o
Externí odkaz:
https://doaj.org/article/d9cb3d6ea31b40e7beb5440463ba69fa
Autor:
Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 265-270 (2022)
Abstract Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is a rare mitochondrial defect of β‐oxidation of long‐chain fatty acids. Patients may present with muscle pain, hypotonia, peripheral neuropathy, cardiomyopathy, recur
Externí odkaz:
https://doaj.org/article/5cfd370f6a034b5f9ff9ce39b6e5540c
Autor:
Loai A. Shakerdi, Jenny McNulty, Barbara Gillman, Claire M. McCarthy, Jessica Ivory, Alison Sheerin, James J. O'Byrne, Jennifer C. Donnelly, Eileen P. Treacy
Publikováno v:
JIMD Reports. 63:265-270
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19f324c8819521050ed79c023e7f3ca4
https://doi.org/10.1002/jmd2.12284
https://doi.org/10.1002/jmd2.12284
Autor:
Orlagh O'Shea, Niall M. Moyna, Véronique Cornelissen, Davide Susta, Ciara McCormack, Noel E. O'Connor, Noel McCaffrey, Brendan McAdam, Alison Sheerin, Helen Newton, Luari McDermott, Clare M. McDermott, Anne Gallagher, Kieran Moran, Roselien Buys, Catherine Woods, Ivan P. Casserly, Jomme Claes
Publikováno v:
Journal of the American College of Cardiology. 73:1895
Despite strong evidence for cardiac rehabilitation (CR) in secondary prevention of CVD, uptake rates are poor and long-term adherence rates are low. Home-based, technology enabled, CR has been advocated as an alternative mode of delivery for communit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::848567c4f3ad5e5305fa1a4afc53bdf5
https://doi.org/10.1016/s0735-1097(19)32501-x
https://doi.org/10.1016/s0735-1097(19)32501-x