1. Glutaric aciduria type 1: Diagnosis, clinical features and long‐term outcome in a large cohort of 34 Irish patients. Issue 4 (14th June 2022) Authors: Healy, Lydia; O'Shea, Meabh; McNulty, Jennifer; King, Graham; Twomey, Eilish; Treacy, Eileen; Crushell, Ellen; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad Ardeshir Journal: JIMD reports Issue: Volume 63:Issue 4(2022) Page Start: 379 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. GP165 Towards estimating the incidence of rare diseases in a paediatric population, born in ireland in the year 2000. (June 2019) Authors: Gunne, Emer; McGarvey, Cliona; Hamilton, Karina; Ward, Alana; Treacy, Eileen; Lambert, Deborah; Lynch, Sally Ann Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A97 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. GP225 Better outcomes of 'high-risk' screened glutaric aciduria type 1 patients give optimism to future cases diagnosed through newborn screening in ireland. (June 2019) Authors: Healy, Lydia; King, Graham; Lawlor, Margeurite; Hughes, Joanne; Knerr, Ina; Treacy, Eileen; Crushell, Ellen; Monavari, Ahmad Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome. Issue 3 (19th January 2022) Authors: Donlon, Eoghan; McGettigan, Jamie; Gaffney, Christine; Ahmad, Marzuki Wan; Boers, Peter; Treacy, Eileen; Chaila, Elijah Journal: Practical neurology Issue: Volume 22:Issue 3(2022) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. P430 Identifying rare disease research priorities through (RAinDRoP) a rare disease research partnership. (June 2019) Authors: Somanadhan, Suja; Kroll, Thilo; Doris, Emma; Nicholson, Emma; Lynch, Sally Ann; Treacy, Eileen; Brinkley, Aoife; Ennis, Sean; Awan, Atif; Kennan, Avril; Garth, Vicky Mc; Mitchell, Derick Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. P627 Mitochondrial disease mimics. (June 2019) Authors: Doyle, Samantha; Abidin, Zaza; Senanayake, Suranga; James, Stephanie; Yap, Mei; Hart, Caroline; Crushell, Ellen; Smyth, Shane; Green, Andrew; Treacy, Eileen; Lynch, Tim; Pastores, Gregory; Laffan, Aoife; O'Byrne, James Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A401 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Issue 1 (December 2016) Authors: Hollak, Carla; Biegstraaten, Marieke; Baumgartner, Matthias; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike; Lachmann, Robin; Langendonk, Janneke; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwe... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ten‐year retrospective review (2003‐2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels. Issue 1 (14th March 2019) Authors: Clark, Anne; Merrigan, Christine; Crushell, Ellen; Hughes, Joanne; Knerr, Ina; Monavari, Ardeshir A.; Treacy, Eileen; Coughlan, Aoife Journal: JIMD reports Issue: Volume 46:Issue 1(2019) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗