Nerney, Darragh, O"Malley, Emer, Kenny, Caroline, Ward, Alana, Sweeney, Geraldine, McGrath, Vicky, Egan, Laura, Treacy, Eileen, Psychological supports for people living with a rare disease in Ireland: an online survey-based study, Irish Journal of Medical Science (1971 -), 2025,
Journal Article,
PUBLISHED
DOI
|
Pereira D, Loftus E, Thompson CE, Boyle F, McNulty J, Boruah R, Crushell E, Howard C, Hughes J, Monavari AA, Treacy EP, Beegan A, Jordan N, Rogers Y, Collins A, Brady JJ, Elsammak M, Mayne PD, Knerr I., Clinical and Developmental Outcomes After 50"Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland., JIMD reports, 66, (3), 2025, pe70022 ,
Journal Article,
PUBLISHED
DOI
|
Journal of Inborn Errors of Metabolism and Screening, 12, e2023-0016, (2024), Karolina Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O"Byrne,
Notes: [https://doi.org/10.1590/2326-4594-JIEMS-2023-0016],
Journal,
PUBLISHED
|
Timmons A, Ward AJ, Sweeney G, Nerney D, Harris S, Treacy EP, Improving the visibility of Rare Diseases in General Medical Practice, Irish Medical Journal, 117, (10), 2024, p1042-,
Journal Article,
PUBLISHED
|
Panis B, Vos N et al including EP Treacy, Brain function in classic galactosemia, a galactosemia network (GalNet) members review, Front Genet, 15, (2024), 2024, p13-,
Notes: [doi: 10.3389/fgene.2024.1355962. eCollection 2024.],
Journal Article,
PUBLISHED
|
Derks B, Rivera-Cruz G, Hagen-Lillevik S, E, Vos N, Demirbas D, Lai K, Treacy EP, Levy HL Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT, The hypergonadotropic hypogonadism conundrum of classic galactosemia., Human Reproduction Update, 29, ((2)), 2023, p246 - 258,
Journal Article,
PUBLISHED
|
Loai A Shakerdi, Barbara Gillman, Emma Corcoran, Jenny McNulty, Eileen P Treacy. Pregnancy in Inherited Metabolic Disorders, Invited review Management of pregnancy in patients with Classical Organic Acidurias in Advances in Understanding the Impact of Pregnancy in Inherited Metabolic Disorders , `Metabolites 2023, 13(4), 518 https://doi.org/10.3390/metabo13040518 , (13) , (4), 2023, p518-,
Notes: [https://doi.org/10.3390/metabo13040518],
Journal Article,
PUBLISHED
|
Ward AJ, Murphy D, Marron R, McGrath V, Bolz-Johnson M, Cullen W, Daly A, Hardiman O, Lawlor A, Lynch SA, MacLachlan M, McBrien J, Ni Bhriain S, O'Byrne JJ, O'Connell SM, Turner J, Treacy EP. , Designing rare disease care pathways in the Republic of Ireland: a co-operative model., Orphanet Journal of Rare Diseases , 11;17(1):1, 2022,
Notes: [doi: 10.1186/s13023-022-02309-6],
Journal Article,
PUBLISHED
|
Gunne E, Lambert DM, Ward AJ, Murphy DN, Treacy EP, Lynch SA , An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature , European Journal of Human Genetics, July 2022, 2022,
Notes: [https://www.nature.com/articles/s41431-022-01144-4],
Journal Article,
PUBLISHED
|
Donlon, Eoghan, McGettigan, Jamie, Gaffney, Christine, Ahmad, Marzuki Wan, Boers, Peter, Treacy, Eileen, Chaila, Elijah, Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome, Practical Neurology, 2022, ppractneurol-2021-003196 ,
Journal Article,
PUBLISHED
DOI
|
|