1. Acute Normoglycemic Ketoacidosis. (4th February 2020) Authors: Dumin, Elena; Idin, Anna; Korman, Stanley H; Tal, Galit Journal: Clinical chemistry Issue: Volume 65:Number 12(2019) Page Start: 1610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia. Issue 2 (20th December 2022) Authors: Daas, Suha; Abu Salah, Nasser; Anikster, Yair; Barel, Ortal; Damseh, Nadirah S.; Dumin, Elena; Fattal‐Valevski, Aviva; Falik‐Zaccai, Tzipora C.; Habib, Clair; Josefsberg, Sagi; Korman, Stanley H.; Kneller, Katya; Landau, Yuval; Lerman‐Sagie, Tally; Mandel, Hanna; Manor, Yehoshua; Moady Abdalla, T... Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 232 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Argininemia, Hyperornithinemia, and 3-Hydroxyisovaleric Aciduria. (1st June 2018) Authors: Tal, Galit; Dar, Dalit E; Idin, Anna; Korman, Stanley H; Dumin, Elena Journal: Clinical chemistry Issue: Volume 64:Number 6(2018) Page Start: 978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease. Issue 3 (22nd January 2018) Authors: Bar‐Yoseph, Ronen; Mandel, Hanna; Mainzer, Gur; Gur, Michal; Tal, Galit; Shalloufeh, George; Bentur, Lea Journal: Pediatric pulmonology Issue: Volume 53:Issue 3(2018) Page Start: 366 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Comprehensive cardiopulmonary assessment in α mannosidosis. Issue 9 (26th June 2020) Authors: Nir, Vered; Bentur, Lea; Tal, Galit; Gur, Michal; Gut, Guy; Ilivitzki, Anat; Zucker‐Toledano, Merav; Hanna, Moneera; Toukan, Yazeed; Bar‐Yoseph, Ronen Journal: Pediatric pulmonology Issue: Volume 55:Issue 9(2020) Page Start: 2348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision. Issue 3 (9th March 2021) Authors: Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A.; Dionisi‐Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C.; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver;... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 3(2021) Page Start: 566 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single‐center experience underscoring the multiple factors involved in the prognosis. Issue 5 (3rd February 2021) Authors: Zaidman, Irina; Elhasid, Ronit; Gefen, Aharon; Yahav Dovrat, Anat; Mutaz, Sultan; Shaoul, Ron; Eshach Adiv, Orly; Mandel, Hanna; Tal, Galit Journal: Pediatric blood & cancer Issue: Volume 68:Issue 5(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. Issue 2 (8th September 2020) Authors: Hirano, Michio; Carelli, Valerio; De Giorgio, Roberto; Pironi, Loris; Accarino, Anna; Cenacchi, Giovanna; D'Alessandro, Roberto; Filosto, Massimiliano; Martí, Ramon; Nonino, Francesco; Pinna, Antonio Daniele; Baldin, Elisa; Bax, Bridget Elizabeth; Bolletta, Alessio; Bolletta, Riccardo; Boschetti,... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 376 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter. Issue 24 (1st August 2022) Authors: Batzios, Spyros; Tal, Galit; DiStasio, Andrew T; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley H; Mandel, Hanna; Steinbach, Peter J; Yi, Ling; Fair, Summer R; Hester, Mark E; Drousiotou, Anthi; Kaler, Stephen G Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome. Issue 3 (9th January 2017) Authors: Falik‐Zaccai, Tzipora C; Barsheshet, Yiftah; Mandel, Hanna; Segev, Meital; Lorber, Avraham; Gelberg, Shachaf; Kalfon, Limor; Ben Haroush, Shani; Shalata, Adel; Gelernter‐Yaniv, Liat; Chaim, Sarah; Raviv Shay, Dorith; Khayat, Morad; Werbner, Michal; Levi, Inbar; Shoval, Yishay; Tal, Galit; Shalev,... Journal: EMBO molecular medicine Issue: Volume 9:Issue 3(2017) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗