1591. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. Issue 3 (5th December 2013) Authors: Trakadis, Y. J.; Alfares, A.; Bodamer, O. A.; Buyukavci, M.; Christodoulou, J.; Connor, P.; Glamuzina, E.; Gonzalez‐Fernandez, F.; Bibi, H.; Echenne, B.; Manoli, I.; Mitchell, J.; Nordwall, M.; Prasad, C.; Scaglia, F.; Schiff, M.; Schrewe, B.; Touati, G.; Tchan, M. C.; Varet, B. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 3(2014) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1592. Uptake of moss‐derived human recombinant GAA in Gaa−/− mice. Issue 1 (1st February 2021) Authors: Hintze, Stefan; Dabrowska‐Schlepp, Paulina; Berg, Birgit; Graupner, Alexandra; Busch, Andreas; Schaaf, Andreas; Schoser, Benedikt; Meinke, Peter Journal: JIMD reports Issue: Volume 59:Issue 1(2021) Page Start: 81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1593. Use of an adeno‐associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model. Issue 6 (19th August 2021) Authors: Kaiser, Robert A.; Weber, Nicholas D.; Trigueros‐Motos, Laia; Allen, Kari L.; Martinez, Michael; Cao, William; VanLith, Caitlin J.; Hillin, Lori G.; Douar, Anne; González‐Aseguinolaza, Gloria; Aldabe, Rafael; Lillegard, Joseph B. Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1594. Use of carglumic acid in valproate‐induced hyperammonemia: 25 pediatric cases. Issue 1 (11th June 2020) Authors: Palomino Pérez, Laura María; Martín‐Rivada, Álvaro; Cañedo Villaroya, Elvira; García‐Peñas, Juan José; Cuervas‐Mons Vendrell, Margarita; Pedrón‐Giner, Consuelo Journal: JIMD reports Issue: Volume 55:Issue 1(2020) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1595. Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study. Issue 1 (18th December 2019) Authors: Tao, Jessica; Rupar, C. Anthony; Miller, Michael R.; Ratko, Suzanne; Prasad, Chitra Journal: JIMD reports Issue: Volume 51:Issue 1(2020) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1596. Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases. Issue 1 (21st September 2022) Authors: Koenig, Mary Kay; Russo, Sam Nick; McBride, Kim L.; Bjornsson, Hans Tomas; Gunnarsdottir, Brynja Bjork; Goldstein, Amy; Falk, Scott A. Journal: JIMD reports Issue: Volume 64:Issue 1(2023) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1597. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases. Issue 5 (1st May 2014) Authors: Feillet, François; Muntau, Ania C.; Debray, François‐Guillaume; Lotz‐Havla, Amelie S.; Puchwein‐Schwepcke, Alexandra; Fofou‐Caillierez, Ma'atem Béatrice; van Spronsen, Francjan; Trefz, Fritz Friedrich Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1598. Use of skimmed breast milk for an infant with a long‐chain fatty acid oxidation disorder: A novel therapeutic intervention. Issue 1 (30th July 2020) Authors: Kritzer, Amy; Tarrant, Stacey; Sussman‐Karten, Karen; Barbas, Kimberly Journal: JIMD reports Issue: Volume 55:Issue 1(2020) Page Start: 44 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1599. 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) ↗
1600. 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) ↗