1611. Usefulness of biochemical parameters in decision‐making on the start of emergency treatment in patients with propionic acidemia. Issue 1 (25th June 2013) Authors: Zwickler, Tamaris; Riderer, Alina; Haege, Gisela; Hoffmann, Georg F.; Kölker, Stefan; Burgard, Peter Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1612. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects. Issue 1 (16th August 2020) Authors: Bedoyan, Jirair K.; Hage, Rosemary; Shin, Ha Kyung; Linard, Sharon; Ferren, Edwin; Ducich, Nicole; Wilson, Kirkland; Lehman, April; Schillaci, Lori‐Anne; Manickam, Kandamurugu; Mori, Mari; Bartholomew, Dennis; DeBrosse, Suzanne; Cohen, Bruce; Parikh, Sumit; Kerr, Douglas Journal: JIMD reports Issue: Volume 56:Issue 1(2020) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1613. Validation of a targeted metabolomics panel for improved second‐tier newborn screening. Issue 2 (2nd February 2023) Authors: Mak, Justin; Peng, Gang; Le, Anthony; Gandotra, Neeru; Enns, Gregory M.; Scharfe, Curt; Cowan, Tina M. Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1614. Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretion. Issue 1 (14th March 2019) Authors: Jack, Rhona M.; Scott, C. Ronald Journal: JIMD reports Issue: Volume 46:Issue 1(2019) Page Start: 75 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1615. Valproyl‐CoA inhibits the activity of ATP‐ and GTP‐dependent succinate:CoA ligases. Issue 3 (24th October 2013) Authors: Luís, Paula B. M.; Ruiter, Jos; IJlst, Lodewijk; de Almeida, Isabel Tavares; Duran, Marinus; Wanders, Ronald J. A.; Silva, Margarida F. B. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 3(2014) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1616. Value of plasma chitotriosidase to assess non‐neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. Issue 6 (16th May 2014) Authors: van Dussen, L.; Hendriks, E. J.; Groener, J. E. M.; Boot, R. G.; Hollak, C. E. M.; Aerts, J. M. F. G. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 6(2014) Page Start: 991 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1617. Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?. Issue 5 (8th June 2021) Authors: Fogh, Sarah; Dipace, Graziana; Bie, Anne; Veiga‐da‐Cunha, Maria; Hansen, Jakob; Kjeldsen, Margrethe; Mosegaard, Signe; Ribes, Antonia; Gregersen, Niels; Aagaard, Lars; Van Schaftingen, Emile; Olsen, Rikke K. J. Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 5(2021) Page Start: 1215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1618. Variation of the serum N‐glycosylation during the pregnancy of a MPI‐CDG patient. Issue 1 (17th September 2021) Authors: Lebredonchel, Elodie; Duvet, Sandrine; Douillard, Claire; Foulquier, François; Klein, André Journal: JIMD reports Issue: Volume 62:Issue 1(2021) Page Start: 22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1619. Vascular endothelial growth factors: multitasking functionality in metabolism, health and disease. Issue 4 (14th April 2015) Authors: Smith, Gina A.; Fearnley, Gareth W.; Harrison, Michael A.; Tomlinson, Darren C.; Wheatcroft, Stephen B.; Ponnambalam, Sreenivasan Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 4(2015) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1620. Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature. Issue 1 (19th August 2020) Authors: Qian, Zhen; Van den Eynde, Jef; Heymans, Stephane; Mertens, Luc; Morava, Eva Journal: JIMD reports Issue: Volume 56:Issue 1(2020) Page Start: 27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗