1. Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake. Issue 1 (22nd July 2021) Authors: Treacy, Eileen P.; Vencken, Sebastian; Bosch, Annet M.; Gautschi, Matthias; Rubio‐Gozalbo, Estela; Dawson, Charlotte; Nerney, Darragh; Colhoun, Hugh Owen; Shakerdi, Loai; Pastores, Gregory M.; O'Flaherty, Roisin; Saldova, Radka Journal: JIMD reports Issue: Volume 61:Issue 1(2021) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Challenges in diagnosing and managing adult patients with urea cycle disorders. Issue 6 (8th May 2019) Authors: Stepien, Karolina M.; Geberhiwot, Tarekegn; Hendriksz, Christian J.; Treacy, Eileen P. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 6(2019) Page Start: 1136 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Determination of the lactose and galactose content of common foods: Relevance to galactosemia. Issue 11 (19th July 2022) Authors: Shakerdi, Loai A.; Wallace, Leonie; Smyth, Georgina; Madden, Nora; Clark, Anne; Hendroff, Una; McGovern, Marianne; Connellan, Sarah; Gillman, Barbara; Treacy, Eileen P. Journal: Food science & nutrition Issue: Volume 10:Issue 11(2022) Page Start: 3789 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Impact of trimethylaminuria on daily psychosocial functioning. Issue 1 (6th October 2020) Authors: Roddy, Daniel; McCarthy, Philomena; Nerney, Darragh; Mulligan‐Rabbitt, Jennifer; Smith, Edwin; Treacy, Eileen P. Journal: JIMD reports Issue: Volume 57:Issue 1(2021) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow‐up. Issue 2 (17th November 2016) Authors: Welling, Lindsey; Bernstein, Laurie E.; Berry, Gerard T.; Burlina, Alberto B.; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S.; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H.; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A.; Õunap, Katrin; Potter, Nancy ... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 2(2017) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency. Issue 1 (14th March 2019) Authors: Stepien, Karolina M.; Schmidt, Wolfgang M.; Bittner, Reginald E.; O'Toole, Orna; McNamara, Brian; Treacy, Eileen P. Journal: JIMD reports Issue: Volume 46:Issue 1(2019) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Management of pregnancy in a patient with long‐chain 3‐hydroxyacyl CoA dehydrogenase deficiency. Issue 4 (12th April 2022) Authors: Shakerdi, Loai A.; McNulty, Jenny; Gillman, Barbara; McCarthy, Claire M.; Ivory, Jessica; Sheerin, Alison; O'Byrne, James J.; Donnelly, Jennifer C.; Treacy, Eileen P. Journal: JIMD reports Issue: Volume 63:Issue 4(2022) Page Start: 265 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland. Issue 3 (20th December 2020) Authors: O'Reilly, Daniel; Crushell, Ellen; Hughes, Joanne; Ryan, Stephanie; Rogers, Yvonne; Borovickova, Ingrid; Mayne, Philip; Riordan, Michael; Awan, Atif; Carson, Kevin; Hunter, Kim; Lynch, Bryan; Shahwan, Amre; Rüfenacht, Véronique; Häberle, Johannes; Treacy, Eileen P.; Monavari, Ahmad A.; Knerr, Ina Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 3(2021) Page Start: 639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗