1. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut0 methylmalonic acidemia. Issue 6 (25th June 2014) Authors: Vernon, Hilary J.; Sperati, C. John; King, Joshua D.; Poretti, Andrea; Miller, Neil R.; Sloan, Jennifer L.; Cameron, Andrew M.; Myers, Donna; Venditti, Charles P.; Valle, David Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 899 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A systematic review of bone mineral density and fractures in phenylketonuria. Issue 6 (9th July 2014) Authors: Hansen, Karen E.; Ney, Denise Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effective clearance of GL‐3 in a human iPSC‐derived cardiomyocyte model of Fabry disease. Issue 6 (22nd May 2014) Authors: Itier, Jean‐Michel; Ret, Gwénaëlle; Viale, Sandra; Sweet, Lindsay; Bangari, Dinesh; Caron, Anne; Le‐Gall, Françoise; Bénichou, Bernard; Leonard, John; Deleuze, Jean‐François; Orsini, Cécile Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 1013 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Effectiveness of enzyme replacement therapy in adults with late‐onset Pompe disease: results from the NCS‐LSD cohort study. Issue 6 (7th June 2014) Authors: Anderson, L. J.; Henley, W.; Wyatt, K. M.; Nikolaou, V.; Waldek, S.; Hughes, D. A.; Lachmann, R. H.; Logan, S. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 945 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo‐controlled study. Issue 6 (9th May 2014) Authors: Hendriksz, Christian J.; Burton, Barbara; Fleming, Thomas R.; Harmatz, Paul; Hughes, Derralynn; Jones, Simon A.; Lin, Shuan‐Pei; Mengel, Eugen; Scarpa, Maurizio; Valayannopoulos, Vassili; Giugliani, Roberto; Slasor, Peter; Lounsbury, Debra; Dummer, Wolfgang Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 979 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β‐ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. Issue 6 (12th August 2014) Authors: Nakajima, Yoko; Meijer, Judith; Dobritzsch, Doreen; Ito, Tetsuya; Meinsma, Rutger; Abeling, Nico G. G. M.; Roelofsen, Jeroen; Zoetekouw, Lida; Watanabe, Yoriko; Tashiro, Kyoko; Lee, Tomoko; Takeshima, Yasuhiro; Mitsubuchi, Hiroshi; Yoneyama, Akira; Ohta, Kazuhide; Eto, Kaoru; Saito, Kayoko; Kuhar... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 1023 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Evaluation of an imaging biomarker, Dixon quantitative chemical shift imaging, in Gaucher disease: lessons learned. Issue 6 (13th June 2014) Authors: van Dussen, L.; Akkerman, E. M.; Hollak, C. E. M.; Nederveen, A. J.; Maas, M. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 1003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanded newborn screening in New South Wales: missed cases. Issue 6 (27th June 2014) Authors: Estrella, Jane; Wilcken, Bridget; Carpenter, Kevin; Bhattacharya, Kaustuv; Tchan, Michel; Wiley, Veronica Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 881 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Functional studies of 18 heterologously expressed medium‐chain acyl‐CoA dehydrogenase (MCAD) variants. Issue 6 (26th June 2014) Authors: Koster, Kira‐Lee; Sturm, Marga; Herebian, Diran; Smits, Sander H. J.; Spiekerkoetter, Ute Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 917 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses. Issue 6 (17th May 2014) Authors: Pey, Angel L.; Maggi, Maristella; Valentini, Giovanna Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗