X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management

by Giampiero Igli Baroncelli, Stefano Mora
Published 2021-08-01

Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

by Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber
Published 2021-04-01

Different Efficacy of Burosumab on Physical Performance and Serum Phosphate in Adult Patients with X-Linked Hyphophosphatemic Rickets during the First Six-Month of Treatment

by Teresa Arcidiacono, Nadia E. Foligno, Elena Brioni, Arianna Bologna, Giovanna Weber, Stefano Mora, Marco Pitea, Corrado Vitale, Giuseppe Vezzoli
Published 2023-04-01

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

by Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia
Published 2013-01-01

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

by Giampiero I. Baroncelli, Pasquale Comberiati, Pasquale Comberiati, Tommaso Aversa, Tommaso Aversa, Federico Baronio, Alessandra Cassio, Alessandra Cassio, Mariangela Chiarito, Mirna Cosci o di Coscio, Luisa De Sanctis, Natascia Di Iorgi, Natascia Di Iorgi, Maria Felicia Faienza, Danilo Fintini, Roberto Franceschi, Mila Kalapurackal, Silvia Longhi, Michela Mariani, Marco Pitea, Andrea Secco, Daniele Tessaris, Francesco Vierucci, Malgorzata Wasniewska, Giovanna Weber, Stefano Mora
Published 2024-04-01

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

by Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L., Deraska, Donald, Cole, William G., Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna
Published 2013