1. ADULT LEUKODYSTROPHY: MULTI-DISCIPLINARY STRUCTURED APPROACH. Issue 10 (9th September 2014) Authors: Merwick, Áine; Ahmed, Rebekah; Murphy, Elaine; Davagnanam, Indran; Schott, Jonathan; Mummery, Catherine; Lachmann, Robin; Houlden, Henry; Fox, Nick Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 10(2014) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cardiac Phenotype of Prehypertrophic Fabry Disease. (June 2018) Authors: Nordin, Sabrina; Kozor, Rebecca; Baig, Shanat; Abdel-Gadir, Amna; Medina-Menacho, Katia; Rosmini, Stefania; Captur, Gabriella; Tchan, Michel; Geberhiwot, Tarekegn; Murphy, Elaine; Lachmann, Robin; Ramaswami, Uma; Edwards, Nicola C.; Hughes, Derralynn; Steeds, Richard P.; Moon, James C. Journal: Circulation Issue: Volume 11:Number 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic predictors of major cardiac events in patients with Anderson–Fabry Disease. Issue 12 (5th February 2015) Authors: Patel, Vimal; O'Mahony, Constantinos; Hughes, Derralynn; Rahman, Mohammad Shafiqur; Coats, Caroline; Murphy, Elaine; Lachmann, Robin; Mehta, Atul; Elliott, Perry M Journal: Heart Issue: Volume 101:Issue 12(2015) Page Start: 961 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Education and training in adult metabolic medicine: Results of an international survey. Issue 1 (21st June 2019) Authors: Sechi, Annalisa; Fabbro, Elisa; Langeveld, Mirjam; Tullio, Annarita; Lachmann, Robin; Mochel, Fanny Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Issue 3 (1st March 2017) Authors: Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew A.; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare E.; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Pet... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational series. Issue 1 (19th October 2021) Authors: Goodison, William; Baron, Fred; Seary, Coralie; Murphy, Elaine; Lachmann, Robin; Stevenson, Valerie L. Journal: JIMD reports Issue: Volume 63:Issue 1(2022) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Isolated aortic root dilation in homocystinuria. Issue 1 (4th October 2017) Authors: Lorenzini, Massimiliano; Guha, Nishan; Davison, James E.; Pitcher, Alex; Pandya, Bejal; Kemp, Helena; Lachmann, Robin; Elliott, Perry M.; Murphy, Elaine Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Issues with European guidelines for phenylketonuria. Issue 9 (September 2017) Authors: Burgard, Peter; Ullrich, Kurt; Ballhausen, Diana; Hennermann, Julia B; Hollak, Carla E M; Langeveld, Mirjam; Karall, Daniela; Konstantopoulou, Vassiliki; Maier, Esther M; Lang, Frauke; Lachmann, Robin; Murphy, Elaine; Garbade, Sven; Hoffmann, Georg F; Kölker, Stefan; Lindner, Martin; Zschocke, Jo... Journal: Lancet Issue: Volume 5:Issue 9(2017) Page Start: 681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Long‐term cognitive and psychosocial outcomes in adults with phenylketonuria. Issue 6 (17th August 2021) Authors: Aitkenhead, Lynne; Krishna, Gauri; Ellerton, Charlotte; Moinuddin, Md; Matcham, Jessica; Shiel, Lisha; Hossain, Shasoty; Kiffin, Marianne; Foley, Jennifer; Skeath, Rachel; Cleary, Maureen; Lachmann, Robin; Murphy, Elaine Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗