Damiano, Roberta; Della Bona, Maria; Procopio, Elena; Guerrini, Renzo; Bettiol, Alessandra; la Marca, Giancarlo (2025). Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests. CLINICAL CHEMISTRY AND LABORATORY MEDICINE, pp. 0-0, ISSN:1434-6621 DOI  

  Damiano, Roberta; Della Bona, Maria; Procopio, Elena; Gasperini, Serena; Guerrini, Renzo; Bettiol, Alessandra; la Marca, Giancarlo (2025). Determination of new biomarkers for diagnosis of pyridoxine dependent epilepsy in human plasma and urine by liquid chromatography-mass spectrometry. CLINICA CHIMICA ACTA, vol. 567, pp. 0-0, ISSN:0009-8981 DOI  

  Barbato, Alessandro; Gori, Giulia; Sacchini, Michele; Pochiero, Francesca; Bargiacchi, Sara; Traficante, Giovanna; Palazzo, Viviana; Tiberi, Lucia; Bianchini, Claudia; Mei, Davide; Parrini, Elena; Pisano, Tiziana; Procopio, Elena; Guerrini, Renzo; Peron, Angela; Stagi, Stefano (2024). Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature. ENDOCRINE CONNECTIONS, vol. 13, pp. 1-9, ISSN:2049-3614 DOI  

  Lastrucci, Elisa; Daniotti, Marta; Procopio, Elena; Scaturro, Giusi; Tubili, Flavia; Martin, Rosanna; la Marca, Giancarlo (2023). Communicating a Positive Result at Newborn Screening and Parental Distress. INTERNATIONAL JOURNAL OF NEONATAL SCREENING, vol. 9, pp. 0-0, ISSN:2409-515X DOI  

  Fino, Edoardo; Barbato, Alessandro; Scaturro, Giusi M.; Procopio, Elena; Balestrini, Simona (2023). DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings. MOLECULAR GENETICS AND METABOLISM REPORTS, vol. 37, pp. 0-0, ISSN:2214-4269 DOI  

  Claudia Nesti , Chiara Ticci , Anna Rubegni , Stefano Doccini , Giusi Scaturro , Annalisa Vetro , Renzo Guerrini , Filippo M Santorelli , Elena Procopio (2023). Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome. JOURNAL OF NEUROLOGY, pp. 0-0, ISSN:0340-5354 DOI  

  Pagano, M; Fumagalli, C; Girolami, F; Passantino, S; Gozzini, A; Brambilla, A; Spinelli, V; Morrone, A; Procopio, E; Pochiero, F; Donati, M A; Olivotto, I; Favilli, S (2022). Clinical profile and outcome of cardiomyopathies in infants and children seen at a tertiary centre. INTERNATIONAL JOURNAL OF CARDIOLOGY, pp. 0-0, ISSN:1874-1754 DOI  

  Fazi, C; Lodi, L; Magi, L; Canessa, C; Giovannini, M; Pelosi, C; Pochiero, F; Procopio, E; Donati, M A; Azzari, C; Ricci, S (2022). Case Report: Zellweger Syndrome and Humoral Immunodeficiency: The Relevance of Newborn Screening for Primary Immunodeficiency. FRONTIERS IN PEDIATRICS, vol. 10, pp. 0-0, ISSN:2296-2360 DOI  

  Tolomeo, Deborah; Orsucci, Daniele; Nesti, Claudia; Baldacci, Jacopo; Battini, Roberta; Bruno, Claudio; Bruno, Giorgia; Cassandrini, Denise; Doccini, Stefano; Donati, M. Alice; Ferrari, Annarita; Fiori, Simona; Fiorillo, Chiara; Guerrini, Renzo; Mari, Francesco; Montomoli, Martino; Pochiero, Francesca; Procopio, Elena; Ruggiero, Lucia; Sampaolo, Simone; Sicca, Federico; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo M. (2021). The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study. INTERNATIONAL JOURNAL OF CLINICAL MEDICINE, vol. 10, pp. 0-0, ISSN:2158-284X DOI  

  Della Vecchia, Stefania; Tessa, Alessandra; Dosi, Claudia; Baldacci, Jacopo; Pasquariello, Rosa; Antenora, Antonella; Astrea, Guja; Bassi, Maria Teresa; Battini, Roberta; Casali, Carlo; Cioffi, Ettore; Conti, Greta; De Michele, Giovanna; Ferrari, Anna Rita; Filla, Alessandro; Fiorillo, Chiara; Fusco, Carlo; Gallone, Salvatore; Germiniasi, Chiara; Guerrini, Renzo; Haggiag, Shalom; Lopergolo, Diego; Martinuzzi, Andrea; Melani, Federico; Mignarri, Andrea; Panzeri, Elena; Pini, Antonella; Pinto, Anna Maria; Pochiero, Francesca; Primiano, Guido; Procopio, Elena; Renieri, Alessandra; Romaniello, Romina; Sancricca, Cristina; Servidei, Serenella; Spagnoli, Carlotta; Ticci, Chiara; Rubegni, Anna; Santorelli, Filippo Maria (2021). Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. JOURNAL OF NEUROLOGY, vol. 269, pp. 437-450, ISSN:0340-5354 DOI  

  Peluso, Francesca; Palazzo, Viviana; Indolfi, Giuseppe; Mari, Francesco; Pasqualetti, Roberta; Procopio, Elena; Nesti, Claudia; Guerrini, Renzo; Santorelli, Filippo; Giglio, Sabrina (2021). Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report. BMC MEDICAL GENOMICS, vol. 4, pp. 0-0, ISSN:1755-8794 DOI  

  Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia (2021). Morquio B disease: From pathophysiology towards diagnosis. MOLECULAR GENETICS AND METABOLISM, vol. 132, pp. 180-188, ISSN:1096-7192 DOI  

  Caciotti A.; Procopio E.; Pochiero F.; Falliano S.; Indolfi G.; Donati M.A.; Ferri L.; Guerrini R.; Morrone A. (2020). SARS-CoV-2 infection in a patient with propionic acidemia. ORPHANET JOURNAL OF RARE DISEASES, vol. 15, pp. 306-311, ISSN:1750-1172 DOI  

  Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A. (2020). Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. MOLECULAR GENETICS AND METABOLISM, vol. 129, pp. 47-58, ISSN:1096-7192 DOI   Accesso ONLINE all'editore

  Brambilla A.; Olivotto I.; Favilli S.; Spaziani G.; Passantino S.; Procopio E.; Morrone A.; Donati M.A. (2020). Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders. ORPHANET JOURNAL OF RARE DISEASES, vol. 15, pp. 0-0, ISSN:1750-1172 DOI  

  Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, Guerrini R. (2020). Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. NEUROLOGY. GENETICS, vol. 6, pp. 0-0, ISSN:2376-7839 DOI  

  Brambilla A.; Favilli S.; Olivotto I.; Calabri G.B.; Porcedda G.; De Simone L.; Procopio E.; Pasquini E.; Donati M.A. (2019). Clinical profile and outcome of cardiac involvement in MELAS syndrome. INTERNATIONAL JOURNAL OF CARDIOLOGY, vol. 276, pp. 14-19, ISSN:0167-5273 DOI   Accesso ONLINE all'editore