1641. Whole‐body magnetic resonance imaging in late‐onset Pompe disease: Clinical utility and correlation with functional measures. Issue 3 (26th November 2019) Authors: Khan, Aleena A.; Boggs, Tracy; Bowling, Michael; Austin, Stephanie; Stefanescu, Mihaela; Case, Laura; Kishnani, Priya S. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 3(2020) Page Start: 549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1642. William L.Nyhan, Georg F.Hoffmann. Atlas of inherited metabolic diseases (Hardcover and e‐Book)4th ed. Boca Raton: CRC Press, Taylor & Francis Group, 2020, 855 p., $175; £120, €124. ISBN‐13: 9781138196599. (With contributions from Aida I. Al‐Aqeel and Bruce A. Barshop). Issue 1 (29th December 2020) Authors: Burgard, Peter Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1643. Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization. Issue 1 (6th February 2020) Authors: Penon‐Portmann, Monica; Lotz‐Esquivel, Stephanie; Chavez Carrera, Alejandra; Jiménez‐Hernández, Mildred; Alvarado‐Romero, Danny; Segura‐Cordero, Sharon; Rimolo‐Donadio, Fiorella; Hevia‐Urrutia, Francisco; Mora‐Guevara, Alfredo; Saborío‐Rocafort, Manuel; Jiménez‐Arguedas, Gabriela; Badilla‐Porras,... Journal: JIMD reports Issue: Volume 52:Issue 1(2020) Page Start: 55 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1644. X‐linked creatine transporter deficiency: clinical aspects and pathophysiology. Issue 5 (1st May 2014) Authors: van de Kamp, Jiddeke M.; Mancini, Grazia M.; Salomons, Gajja S. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 715 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1645. Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. Issue 1 (19th August 2015) Authors: Berendse, Kevin; Engelen, Marc; Ferdinandusse, Sacha; Majoie, Charles B. L. M.; Waterham, Hans R.; Vaz, Frédéric M.; Koelman, Johannes H. T. M.; Barth, Peter G.; Wanders, Ronald J. A.; Poll‐The, Bwee Tien Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1646. « Les Confluences » SSIEM 2015 Annual Symposium in Lyon. Issue 4 (18th April 2016) Authors: Vianey‐Saban, Christine Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 4(2016) Page Start: 481 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1647. Β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy. Issue 6 (6th September 2022) Authors: Pedersen, Jonas Jalili; Duno, Morten; Wibrand, Flemming; Hammer, Christian; Krag, Thomas; Vissing, John Journal: JIMD reports Issue: Volume 63:Issue 6(2022) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1648. Β‐Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency. Issue 2 (13th October 2021) Authors: Wada, Yoichi; Arai‐Ichinoi, Natsuko; Kikuchi, Atsuo; Kure, Shigeo Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
1649. Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder. Issue 4 (9th February 2020) Authors: Marco‐Marín, Clara; Escamilla‐Honrubia, Juan M.; Llácer, José L.; Seri, Marco; Panza, Emanuele; Rubio, Vicente Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 4(2020) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗