Barbara Siri

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 7

Top Topics

Risk Assessment

Replacement Therapy

Parkinson Disease

Top Venues

Orphanet journal of rare diseases

Journal of inherited metabolic disease

European journal of endocrinology

Journal of pediatric endocrinology & metabolism : JPEM

This page only lists publications with an associated author ORCID identifier.

Publications

Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet journal of rare diseases 19 (1) (2024)
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet journal of rare diseases 19 (1) (2024)
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease. Orphanet journal of rare diseases 19 (1) (2024)
Diego Martinelli, Giulio Catesini, Benedetta Greco, Alessia Guarnera, Chiara Parrillo, Evelina Maines, Daniela Longo, Antonio Napolitano, Francesca De Nictolis, Sara Cairoli, Daniela Liccardo, Stefania Caviglia, Anna Sidorina, Giorgia Olivieri, Barbara Siri, Roberto Bianchi, Gionata Spagnoletti, Luca Dello Strologo, Marco Spada, Carlo Dionisi-Vici
Neurologic outcome following liver transplantation for methylmalonic aciduria. Journal of inherited metabolic disease (2023)
Diego Martinelli, Giulio Catesini, Benedetta Greco, Alessia Guarnera, Chiara Parrillo, Evelina Maines, Daniela Longo, Antonio Napolitano, Francesca De Nictolis, Sara Cairoli, Daniela Liccardo, Stefania Caviglia, Anna Sidorina, Giorgia Olivieri, Barbara Siri, Roberto Bianchi, Gionata Spagnoletti, Luca Dello Strologo, Marco Spada, Carlo Dionisi-Vici
Neurologic outcome following liver transplantation for methylmalonic aciduria. Journal of inherited metabolic disease (2023)
Barbara Siri, Annamaria D'Alessandro, Arianna Maiorana, Ottavia Porzio, Lucilla Ravà, Carlo Dionisi-Vici, Marco Cappa, Diego Martinelli
Adrenocortical function in patients with Single Large Scale Mitochondrial DNA Deletions: a retrospective single centre cohort study. European journal of endocrinology (2023)
Francesco Porta, Barbara Siri, Nicoletta Chiesa, Federica Ricci, Lulash Nika, Paola Sciortino, Marco Spada
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature. Journal of pediatric endocrinology & metabolism : JPEM 34 (2) (2020)