1. Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency. Issue 1 (13th October 2017) Authors: Peters, Verena; Zschocke, Johannes; Schmitt, Claus P. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Do inborn errors of metabolism confer or impede the risk of diabetes?. Issue 1 (11th December 2017) Authors: Peters, Verena; Vockley, Jerry Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Issue 1 (4th October 2017) Authors: Karaa, Amel; Rahman, Shamima; Lombès, Anne; Yu‐Wai‐Man, Patrick; Sheikh, Muniza K.; Alai‐Hansen, Sherita; Cohen, Bruce H.; Dimmock, David; Emrick, Lisa; Falk, Marni J.; McCormack, Shana; Mirsky, David; Moore, Tony; Parikh, Sumit; Shoffner, John; Taivassalo, Tanja; Tarnopolsky, Mark; Tein, Ingrid;... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 151 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. Issue 1 (26th September 2017) Authors: Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal M. E.; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence A. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders. Issue 1 (12th October 2017) Authors: Meyburg, Jochen; Opladen, Thomas; Spiekerkötter, Ute; Schlune, Andrea; Schenk, Jens‐Peter; Schmidt, Jan; Weitz, Jürgen; Okun, Jürgen; Bürger, Friederike; Omran, Tawfeg Ben; Abdoh, Ghassan; Al Rifai, Hilal; Monavari, Ahmad; Konstantopoulou, Vassiliki; Kölker, Stefan; Yudkoff, Marc; Hoffmann, Georg F. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Impaired fertility and motor function in a zebrafish model for classic galactosemia. Issue 1 (14th September 2017) Authors: Vanoevelen, Jo M.; van Erven, Britt; Bierau, Jörgen; Huang, Xiaoping; Berry, Gerard T.; Vos, Rein; Coelho, Ana I.; Rubio‐Gozalbo, M. Estela Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Impairment of astrocytic glutaminolysis in glutaric aciduria type I. Issue 1 (2nd November 2017) Authors: Komatsuzaki, Shoko; Ediga, Raga Deepthi; Okun, Jürgen G.; Kölker, Stefan; Sauer, Sven W. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus. Issue 1 (24th January 2017) Authors: Bloom, Kaitlyn; Mohsen, Al‐Walid; Karunanidhi, Anuradha; El Demellawy, Dina; Reyes‐Múgica, Miguel; Wang, Yudong; Ghaloul‐Gonzalez, Lina; Otsubo, Chikara; Tobita, Kimi; Muzumdar, Radhika; Gong, Zhenwei; Tas, Emir; Basu, Shrabani; Chen, Jie; Bennett, Michael; Hoppel, Charles; Vockley, Jerry Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗