1561. Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes. Issue 2 (19th December 2022) Authors: Wahedi, Azizia; Soondram, Chandika; Murphy, Alan E.; Skene, Nathan; Rahman, Shamima Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1562. Transcriptomic study in explanted liver from a patient with acute intermittent porphyria. Issue 1 (11th September 2022) Authors: To‐Figueras, Jordi; Titos, Esther; Aguilera, Paula; Díaz, Alba; Muñoz‐Luque, Javier; Madrigal, Irene; Badenas, Celia; Torra, Mercè; Fondevila, Constantino; Colmenero, Jordi Journal: JIMD reports Issue: Volume 64:Issue 1(2023) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1563. Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. Issue 1 (22nd July 2019) Authors: Chang, Caitlin A.; Wei, Xing‐Chang; Martin, Steven R.; Sinasac, David S.; Al‐Hertani, Walla Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1564. Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1, 2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG). Issue 1 (20th March 2021) Authors: Kemme, Lisa; Grüneberg, Marianne; Reunert, Janine; Rust, Stephan; Park, Julien; Westermann, Cordula; Wada, Yoshinao; Schwartz, Oliver; Marquardt, Thorsten Journal: JIMD reports Issue: Volume 60:Issue 1(2021) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1565. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era. Issue 2 (5th February 2019) Authors: Wanders, Ronald J. A.; Vaz, Frederic M.; Ferdinandusse, Sacha; van Kuilenburg, André B. P.; Kemp, Stephan; van Karnebeek, Clara D.; Waterham, Hans R.; Houtkooper, Riekelt H. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1566. Transplantation as disease modifying therapy in adults with inherited metabolic disorders. Issue 5 (1st February 2018) Authors: Sirrs, Sandra; Hannah‐Shmouni, Fady; Nantel, Stephen; Neuberger, James; Yoshida, Eric M. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 5(2018) Page Start: 885 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1567. Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report. Issue 1 (27th October 2022) Authors: Yokoi, Katsuyuki; Nakajima, Yoko; Takahashi, Yoshihisa; Hamajima, Takashi; Tajima, Go; Saito, Kazuyoshi; Miyai, Shunsuke; Inagaki, Hidehito; Yoshikawa, Tetsushi; Kurahashi, Hiroki; Ito, Tetsuya Journal: JIMD reports Issue: Volume 64:Issue 1(2023) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1568. Treating inborn errors of liver metabolism with stem cells: current clinical development. Issue 4 (26th March 2014) Authors: Sokal, Etienne Marc Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 4(2014) Page Start: 535 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1569. Treating lysosomal storage disorders: What have we learnt?. Issue 1 (26th June 2019) Authors: Lachmann, Robin H. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 1(2020) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1570. Treatment effect of coenzyme Q10 and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. Issue 3 (18th December 2013) Authors: Matalonga, Leslie; Arias, Angela; Coll, María Josep; Garcia‐Villoria, Judit; Gort, Laura; Ribes, Antonia Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 3(2014) Page Start: 439 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗