1. Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance. Issue 1 (15th November 2021) Authors: Nuovo, Sara; Baglioni, Valentina; De Mori, Roberta; Tardivo, Silvia; Caputi, Caterina; Ginevrino, Monia; Micalizzi, Alessia; Masuelli, Laura; Federici, Giulia; Casella, Antonella; Lorefice, Elisa; Anello, Danila; Tolve, Manuela; Farini, Donatella; Bertini, Enrico; Zanni, Ginevra; Travaglini, Lore... Journal: Human mutation Issue: Volume 43:Issue 1(2022) Page Start: 67 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency. (October 2022) Authors: Manti, Filippo; Mastrangelo, Mario; Battini, Roberta; Carducci, Claudia; Spagnoli, Carlotta; Fusco, Carlo; Tolve, Manuela; Carducci, Carla; Leuzzi, Vincenzo Journal: Parkinsonism & related disorders Issue: Volume 103(2022) Page Start: 105 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular genetics and diagnosis of phenylketonuria: state of the art. (July 2014) Authors: Blau, Nenad; Shen, Nan; Carducci, Carla Journal: Expert review of molecular diagnostics Issue: Volume 14:Number 6(2014) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular genetics and diagnosis of phenylketonuria: state of the art. (July 2014) Authors: Blau, Nenad; Shen, Nan; Carducci, Carla Journal: Expert review of molecular diagnostics Issue: Volume 14:Number 6(2014) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan. Issue 1 (19th May 2020) Authors: Carducci, Carla; Amayreh, Wajdi; Ababneh, Haneen; Mahasneh, Amjad; Al Rababah, Buthaina; Al Qaqa, Kefah; Al Aqeel, Momen; Artiola, Cristiana; Tolve, Manuela; D'Amici, Sirio; Shen, Nan; Yu, Yongguo; Hillert, Alicia; Himmelreich, Nastassja; Okun, Jürgen G.; Hoffmann, Georg F.; Blau, Nenad Journal: JIMD reports Issue: Volume 55:Issue 1(2020) Page Start: 59 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator‐related metabolic syndrome/CF screen‐positive, inconclusive diagnosis. Issue 12 (29th September 2021) Authors: Terlizzi, Vito; Claut, Laura; Colombo, Carla; Tosco, Antonella; Castaldo, Alice; Fabrizzi, Benedetta; Lucarelli, Marco; Cimino, Giuseppe; Carducci, Carla; Dolce, Daniela; Biffi, Arianna; Bonomi, Paolo; Timpano, Silviana; Padoan, Rita Journal: Pediatric pulmonology Issue: Volume 56:Issue 12(2021) Page Start: 3785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Predictability and inconsistencies in the cognitive outcome of early treated PKU patients. Issue 6 (23rd August 2017) Authors: Manti, Filippo; Nardecchia, Francesca; Paci, Sabrina; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Dalmazzone, Silvia; Cefalo, Graziella; Salvatici, Elisabetta; Banderali, Giuseppe; Leuzzi, Vincenzo Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 6(2017) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome. Issue 4 (12th May 2018) Authors: Mastrangelo, Mario; Manti, Filippo; Patanè, Luisa; Ferrari, Stefania; Carducci, Carla; Carducci, Claudia; Mangili, Giovanna; Leuzzi, Vincenzo Journal: Movement disorders clinical practice Issue: Volume 5:Issue 4(2018) Page Start: 446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗