1. Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy. (18th September 2018) Authors: Diodato, Daria; Olivieri, Giorgia; Pro, Sefano; Maiorani, Daniela; Martinelli, Diego; Deodato, Federica; Taurisano, Roberta; Di Capua, Matteo; Dionisi-Vici, Carlo Journal: Neurology Issue: Volume 91:Number 12(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia. Issue 6 (23rd August 2020) Authors: Maines, Evelina; Catesini, Giulio; Boenzi, Sara; Mosca, Antonella; Candusso, Manila; Dello Strologo, Luca; Martinelli, Diego; Maiorana, Arianna; Liguori, Alessandra; Olivieri, Giorgia; Taurisano, Roberta; Piemonte, Fiorella; Rizzo, Cristiano; Spada, Marco; Dionisi‐Vici, Carlo Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 6(2020) Page Start: 1173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. Issue 1 (15th November 2019) Authors: Baban, Anwar; Adorisio, Rachele; Corica, Bernadette; Rizzo, Cristiano; Calì, Federica; Semeraro, Michela; Taurisano, Roberta; Magliozzi, Monia; Carrozzo, Rosalba; Parisi, Francesco; Dallapiccola, Bruno; Vaz, Frédéric M.; Drago, Fabrizio; Dionisi‐Vici, Carlo Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Issue 5 (4th January 2013) Authors: Mozzillo, Enza; Melis, Daniela; Falco, Mariateresa; Fattorusso, Valentina; Taurisano, Roberta; Flanagan, Sarah E; Ellard, Sian; Franzese, Adriana Journal: Pediatric diabetes Issue: Volume 14:Issue 5(2013) Page Start: 384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes. Issue 6 (9th February 2017) Authors: Pichiecchio, Anna; Rossi, Marta; Cinnante, Claudia; Colafati, Giovanna Stefania; De Icco, Roberto; Parini, Rossella; Menni, Francesca; Furlan, Francesca; Burlina, Alberto; Sacchini, Michele; Donati, Maria Alice; Fecarotta, Simona; Casa, Roberto Della; Deodato, Federica; Taurisano, Roberta; Di Roc... Journal: Muscle & nerve Issue: Volume 55:Issue 6(2017) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding. Issue 3 (28th December 2020) Authors: Sidorina, Anna; Catesini, Giulio; Levi Mortera, Stefano; Marzano, Valeria; Putignani, Lorenza; Boenzi, Sara; Taurisano, Roberta; Garibaldi, Matteo; Deodato, Federica; Dionisi‐Vici, Carlo Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 3(2021) Page Start: 705 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hypoglycemia in a Pediatric Emergency Department: Single-Center Experience on 402 Children. Issue 1 (3rd December 2020) Authors: Papini, Laura; Piga, Simone; Dionisi-Vici, Carlo; Parisi, Pasquale; Ciofi degli Atti, Marta Luisa; Marcias, Michela; Garrone, Stefano; Scialanga, Barbara; Taurisano, Roberta; Reale, Antonino; Villa, Maria Pia; Raucci, Umberto Journal: Pediatric emergency care Issue: Volume 38:Issue 1(2022) Page Start: e404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hypoglycemia in a Pediatric Emergency Department: Single-Center Experience on 402 Children. Issue 1 (January 2022) Authors: Papini, Laura; Piga, Simone; Dionisi-Vici, Carlo; Parisi, Pasquale; Ciofi degli Atti, Marta Luisa; Marcias, Michela; Garrone, Stefano; Scialanga, Barbara; Taurisano, Roberta; Reale, Antonino; Villa, Maria Pia; Raucci, Umberto Journal: Pediatric emergency care Issue: Volume 38:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants. (October 2017) Authors: Pisciotta, Livia; Tozzi, Giulia; Travaglini, Lorena; Taurisano, Roberta; Lucchi, Tiziano; Indolfi, Giuseppe; Papadia, Francesco; Di Rocco, Maja; D'Antiga, Lorenzo; Crock, Patricia; Vora, Komal; Nightingale, Scott; Michelakakis, Helen; Garoufi, Anastasia; Lykopoulou, Lilia; Bertolini, Stefano; Cal... Journal: Atherosclerosis Issue: Volume 265(2017) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗