1. Clinical features of neuromyelitis optica in children: US Network of Pediatric MS Centers report. (19th January 2016) Authors: Chitnis, Tanuja; Ness, Jayne; Krupp, Lauren; Waubant, Emmanuelle; Hunt, Tyler; Olsen, Cody S.; Rodriguez, Moses; Lotze, Tim; Gorman, Mark; Benson, Leslie; Belman, Anita; Weinstock-Guttman, Bianca; Aaen, Greg; Graves, Jennifer; Patterson, Marc; Rose, John W.; Casper, T. Charles Journal: Neurology Issue: Volume 86:Number 3(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cognitive Impairment Occurs in Children and Adolescents With Multiple Sclerosis: Results From a United States Network. (January 2013) Authors: Julian, Laura; Serafin, Dana; Charvet, Leigh; Ackerson, Joseph; Benedict, Ralph; Braaten, Ellen; Brown, Tanya; O'Donnell, Ellen; Parrish, Joy; Preston, Thomas; Zaccariello, Michael; Belman, Anita; Chitnis, Tanuja; Gorman, Mark; Ness, Jayne; Patterson, Marc; Rodriguez, Moses; Waubant, Emmanuelle; ... Journal: Journal of child neurology Issue: Volume 28:Number 1(2013) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Developments in evidence creation for treatments of inborn errors of metabolism. Issue 1 (4th October 2020) Authors: Stockler‐Ipsiroglu, Sylvia; Potter, Beth K.; Yuskiv, Nataliya; Tingley, Kylie; Patterson, Marc; van Karnebeek, Clara Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 88 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. G. F. Hoffmann, J. Zschocke, W. Nyhan (eds): Inherited metabolic diseases. A clinical approach. Second edition: Heidelberg: Springer‐Verlag, 2017, (ISBN: 3662494108, 9783662494103). Issue 1 (9th December 2016) Authors: Patterson, Marc Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019) Authors: Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up. Issue 1 (11th February 2019) Authors: Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena‐Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Newborn screening: To WES or not to WES, that is the question. Issue 5 (2nd September 2020) Authors: Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Peters, Verena; Rahman, Shamima Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 5(2020) Page Start: 904 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Peer review fraud—it's not big and it's not clever. Issue 1 (11th December 2015) Authors: Rahman, Shamima; Baumgartner, Matthias R.; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Quo vadis now: Beyond genomics to an era of personalised medicine. Issue 2 (28th February 2022) Authors: Rahman, Shamima; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Quo vadis: the re‐definition of "inborn metabolic diseases". Issue 6 (29th September 2015) Authors: Morava, Eva; Rahman, Shamima; Peters, Verena; Baumgartner, Matthias R.; Patterson, Marc; Zschocke, Johannes Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗