1. 116 Dietetic management of an infant with methylmalonyl-CoA mutase0 deficiency (MMAmut0) and hepatoblastoma pre and post liver transplantation. (22nd November 2019) Authors: Herlihy, Ide; Skeath, Rachel; Grunewald, Stephanie Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 26 Clinical trials and tribulations: the ordeals of setting up a high intensity clinical trial during COVID19 times. (15th December 2021) Authors: Ciancio, Jose Rodriguez; Grunewald, Stephanie; Foxall, Sophie; Ciocce, Antonella; Gibbons, Lois Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 3 Page Start: A10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 65 When a metabolic screening fails a potential treatable diagnosis. (22nd November 2019) Authors: Elkhateeb, Nour; McSweeney, Melanie; Grunewald, Stephanie Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017) Authors: Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bullying bystander behaviors: The role of coping effectiveness and the moderating effect of gender. Issue 1 (28th June 2019) Authors: Parris, Leandra; Jungert, Tomas; Thornberg, Robert; Varjas, Kris; Meyers, Joel; Grunewald, Stephanie; Shriberg, David Journal: Scandinavian journal of psychology Issue: Volume 61:Issue 1(2020) Page Start: 38 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019) Authors: Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; ... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. (June 2021) Authors: Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima Journal: Neurology Issue: Volume 7:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. Issue 2 (2nd February 2022) Authors: Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie Journal: JIMD reports Issue: Volume 63:Issue 2(2022) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Disorders of carbohydrate metabolism: a review of glycogen storage disorders. Issue 3 (March 2023) Authors: Yeo, Mildrid; Moawad, Hager; Grunewald, Stephanie Journal: Paediatrics and child health Issue: Volume 33:Issue 3(2023) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study. Issue 1 (14th September 2020) Authors: Vockley, Jerry; Burton, Barbara; Berry, Gerard; Longo, Nicola; Phillips, John; Sanchez‐Valle, Amarilis; Chapman, Kimberly; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Lu, Xiaoxiao; Cataldo, Jason Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗