1. A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. Issue 6 (26th September 2022) Authors: Katler, Quinton S.; Stepien, Karolina M.; Paull, Nathan; Patel, Sneh; Adams, Michael; Balci, Mehmet Cihan; Berry, Gerard T.; Bosch, Annet M.; DeLaO, Angela; Demirbas, Didem; Edman, Julianna; Ficicioglu, Can; Goff, Melanie; Hacker, Stephanie; Knerr, Ina; Lancaster, Kristen; Li, Hong; Mendelsohn, B... Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 6(2022) Page Start: 1106 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Issue 9 (18th April 2016) Authors: Alston, Charlotte L; Howard, Caoimhe; Oláhová, Monika; Hardy, Steven A; He, Langping; Murray, Philip G; O'Sullivan, Siobhan; Doherty, Gary; Shield, Julian P H; Hargreaves, Iain P; Monavari, Ardeshir A; Knerr, Ina; McCarthy, Peter; Morris, Andrew A M; Thorburn, David R; Prokisch, Holger; Clayton, ... Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease. Issue 2 (8th December 2022) Authors: Howard, Caoimhe; Dev‐Borman, Arundhati; Stokes, John; O'Rourke, Declan; Gillespie, Ciara; Twomey, Eilish; Knerr, Ina; Boruah, Ritma Journal: JIMD reports Issue: Volume 64:Issue 2(2023) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Catalogue of inherited disorders found among the Irish Traveller population. Issue 4 (22nd January 2018) Authors: Lynch, Sally Ann; Crushell, Ellen; Lambert, Deborah M; Byrne, Niall; Gorman, Kathleen; King, Mary D; Green, Andrew; O'Sullivan, Siobhan; Browne, Fiona; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad A; Cotter, Melanie; McConnell, Vivienne P M; Kerr, Bronwyn; Jones, Simon A; Keenan, Catriona; Murphy,... Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. Issue 6 (28th April 2015) Authors: Casey, Jillian P.; Slattery, Suzanne; Cotter, Melanie; Monavari, A. A.; Knerr, Ina; Hughes, Joanne; Treacy, Eileen P.; Devaney, Deirdre; McDermott, Michael; Laffan, Eoghan; Wong, Derek; Lynch, Sally Ann; Bourke, Billy; Crushell, Ellen Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1085 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency. Issue 5 (1st August 2019) Authors: Knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begona; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, I... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 5(2019) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results. (24th June 2018) Authors: Clark, Anne; Deverell, Deirdre; Corcoran, Emma; Macauley, Margaret; Newcombe, Nicola; Branagan, Peter; Coughlan, Aoife; Daly, Eimear; Moore Heslin, Aoibhin; Crushell, Ellen; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad Other Names: Huerta José María Academic Editor. Journal: Journal of nutrition and metabolism Issue: Volume 2018(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. GP223 Creatine deficiency disorders the all-ireland experience. (June 2019) Authors: Howard, Caoimhe; Monavari, AA; Knerr, Ina; Pastores, Gregory; O'Sullivan, Siobhan; Crushell, Ellen Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗