1. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Issue 1 (2nd January 2016) Authors: Klionsky, Daniel J; Abdelmohsen, Kotb; Abe, Akihisa; Abedin, Md Joynal; Abeliovich, Hagai; Acevedo Arozena, Abraham; Adachi, Hiroaki; Adams, Christopher M; Adams, Peter D; Adeli, Khosrow; Adhihetty, Peter J; Adler, Sharon G; Agam, Galila; Agarwal, Rajesh; Aghi, Manish K; Agnello, Maria; Agostinis... Journal: Autophagy Issue: Volume 12:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. Issue 8 (November 2017) Authors: Nashabat, Marwan; Maegawa, Gustavo; Nissen, Peter H.; Nexo, Ebba; Al-Shamrani, Hussain; Al-Owain, Mohammed; Alfadhel, Majid Journal: Journal of pediatric hematology/oncology Issue: Volume 39:Issue 8(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines. Issue 3 (9th January 2021) Authors: Mallack, Eric J.; Turk, Bela R.; Yan, Helena; Price, Carrie; Demetres, Michelle; Moser, Ann B.; Becker, Catherine; Hollandsworth, Kim; Adang, Laura; Vanderver, Adeline; Van Haren, Keith; Ruzhnikov, Maura; Kurtzberg, Joanne; Maegawa, Gustavo; Orchard, Paul J.; Lund, Troy C.; Raymond, Gerald V.; Re... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 3(2021) Page Start: 728 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial. Issue 3 (8th April 2019) Authors: Schiffmann, Raphael; Goker‐Alpan, Ozlem; Holida, Myrl; Giraldo, Pilar; Barisoni, Laura; Colvin, Robert B.; Jennette, Charles J.; Maegawa, Gustavo; Boyadjiev, Simeon A.; Gonzalez, Derlis; Nicholls, Kathy; Tuffaha, Ahmad; Atta, Mohamed G.; Rup, Bonita; Charney, Martha R.; Paz, Alona; Szlaifer, Mali... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Premature Identical Twin Neonates With Sleep Apnea. (October 2017) Authors: Ramesh, Anirudh; Diaz, Johanna; Nogee, Lawrence; Duis, Jessica; Jang, Dae Song; Lawson, Cathleen; Maegawa, Gustavo Journal: Clinical pediatrics Issue: Volume 56:Number 11(2017) Page Start: 1075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗