1. A Systematic Review and Meta-Analysis of Single-Incision Versus Multiport Laparoscopic Complete Mesocolic Excision Colectomy for Colon Cancer. (April 2020) Authors: Athanasiou, Christos; Pitt, James; Malik, Arshad; Crabtree, Michael; Markides, Georgios A. Journal: Surgical innovation Issue: Volume 27:Number 2(2020) Page Start: 235 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Age, Sex, and Depot‐Specific Differences in Adipose‐Tissue Estrogen Receptors in Individuals with Obesity. Issue 9 (31st July 2020) Authors: Porter, Jay W.; Barnas, Jillian L.; Welly, Rebecca; Spencer, Nicole; Pitt, James; Vieira‐Potter, Victoria J.; Kanaley, Jill A. Journal: Obesity Issue: Volume 28:Issue 9(2020) Page Start: 1698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. Issue 10 (6th August 2015) Authors: Yamada, Kenichiro; Aiba, Kaori; Kitaura, Yasuyuki; Kondo, Yusuke; Nomura, Noriko; Nakamura, Yuji; Fukushi, Daisuke; Murayama, Kei; Shimomura, Yoshiharu; Pitt, James; Yamaguchi, Seiji; Yokochi, Kenji; Wakamatsu, Nobuaki Journal: Journal of medical genetics Issue: Volume 52:Issue 10(2015) Page Start: 691 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia. Issue 1 (20th August 2020) Authors: Kiss, Sharmila; Lee, Joy Yaplito; Pitt, James; MacGregor, Duncan; Wallace, Jane; Marty, Melanie; Brown, Natasha J. Journal: JIMD reports Issue: Volume 56:Issue 1(2020) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature. Issue 1 (15th November 2020) Authors: Heath, Oliver; Pitt, James; Mandelstam, Simone; Kuschel, Carl; Vasudevan, Anand; Donoghue, Sarah Journal: JIMD reports Issue: Volume 58:Issue 1(2021) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder. Issue 1 (28th October 2020) Authors: Simon, Mariella T.; Eftekharian, Shaya S.; Ferdinandusse, Sacha; Tang, Sha; Naseri, Take; Reupena, Muagututi'a Sefuiva; McGarvey, Stephen T.; Minster, Ryan L.; Weeks, Daniel E.; Nguyen, Daniel D.; Lee, Sansan; Ellsworth, Katarzyna A.; Vaz, Frédéric M.; Dimmock, David; Pitt, James; Abdenur, Jose E. Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Implementation of written consent for newborn screening in Victoria, Australia. (23rd December 2013) Authors: Charles, Taryn; Pitt, James; Halliday, Jane; Amor, David J Journal: Journal of paediatrics and child health Issue: Volume 50:Number 5(2014:May) Page Start: 399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function. (24th August 2022) Authors: Burgin, Harrison; Sharpe, Alice J.; Nie, Shuai; Ziemann, Mark; Crameri, Jordan J.; Stojanovski, Diana; Pitt, James; Ohtake, Akira; Murayama, Kei; McKenzie, Matthew Journal: FEBS journal Issue: Volume 290:Number 1(2023) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Issue 3 (15th February 2017) Authors: Wortmann, Saskia B.; Chen, Margaret A.; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D.; Yuzyuk, Tatiana; Coughlin, Curtis R.; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B.; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, L... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases. Issue 2 (1st February 2023) Authors: Post, Merel A.; de Wit, Isis; Zijlstra, Fokje S. M.; Engelke, Udo F. H.; van Rooij, Arno; Christodoulou, John; Tan, Tiong Yang; Le Fevre, Anna; Jin, Danqun; Yaplito‐Lee, Joy; Lee, Beom Hee; Low, Karen J.; Mallick, Andrew A.; Õunap, Katrin; Pitt, James; Reardon, William; Vals, Mari‐Anne; Wortmann,... Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 313 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗