1. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021) Authors: Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. Issue 11 (3rd May 2017) Authors: Ghosh, Arunabha; Schlecht, Helene; Heptinstall, Lesley E; Bassett, John K; Cartwright, Eleanor; Bhaskar, Sanjeev S; Urquhart, Jill; Broomfield, Alexander; Morris, Andrew AM; Jameson, Elisabeth; Schwahn, Bernd C; Walter, John H; Douzgou, Sofia; Murphy, Helen; Hendriksz, Chris; Sharma, Reena; Wilco... Journal: Archives of disease in childhood Issue: Volume 102:Issue 11(2017) Page Start: 1019 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Issue 10007 (14th November 2015) Authors: Schwahn, Bernd C; Van Spronsen, Francjan J; Belaidi, Abdel A; Bowhay, Stephen; Christodoulou, John; Derks, Terry G; Hennermann, Julia B; Jameson, Elisabeth; König, Kai; McGregor, Tracy L; Font-Montgomery, Esperanza; Santamaria-Araujo, José A; Santra, Saikat; Vaidya, Mamta; Vierzig, Anne; Wassmer,... Journal: Lancet Issue: Volume 386:Issue 10007(2015) Page Start: 1955 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study. Issue 2 (24th October 2016) Authors: Harmatz, Paul R.; Mengel, Eugen; Geberhiwot, Tarekegn; Muschol, Nicole; Hendriksz, Christian J.; Burton, Barbara K.; Jameson, Elisabeth; Berger, Kenneth I.; Jester, Andrea; Treadwell, Marsha; Sisic, Zlatko; Decker, Celeste Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. Issue 6 (7th March 2016) Authors: Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H; Shah, Neil; Patel, Smita Y; Booth, Claire; Runz, Heiko; Düker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Plat... Journal: Gut Issue: Volume 66:Issue 6(2017) Page Start: 1060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Medium-chain acyl-CoA dehydrogenase deficiency. Issue 3 (March 2015) Authors: Jameson, Elisabeth; Walter, John H. Journal: Paediatrics and child health Issue: Volume 25:Issue 3(2015) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Medium-chain acyl-CoA dehydrogenase deficiency. Issue 3 (March 2019) Authors: Jameson, Elisabeth; Walter, John H. Journal: Paediatrics and child health Issue: Volume 29:Issue 3(2019) Page Start: 123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. (22nd August 2019) Authors: Oláhová, Monika; Berti, Camilla Ceccatelli; Collier, Jack J; Alston, Charlotte L; Jameson, Elisabeth; Jones, Simon A; Edwards, Noel; He, Langping; Chinnery, Patrick F; Horvath, Rita; Goffrini, Paola; Taylor, Robert W; Sayer, John A Journal: Human molecular genetics Issue: Volume 28:Number 22(2019) Page Start: 3766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Optic neuropathy in methylmalonic acidemia and propionic acidemia. Issue 1 (24th July 2015) Authors: Martinez Alvarez, Lidia; Jameson, Elisabeth; Parry, Neil R A; Lloyd, Chris; Ashworth, Jane L Journal: British journal of ophthalmology Issue: Volume 100:Issue 1(2016) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗