Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

INTRODUCTION: Hypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys. METHODS: There were 30 suspected HPP patients recruited from different Italian tertiary cares....

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Detalles Bibliográficos
Autores principales: Cinque, Luigia, Pugliese, Flavia, Salcuni, Antonio Stefano, Trombetta, Domenico, Battista, Claudia, Biagini, Tommaso, Augello, Bartolomeo, Nardella, Grazia, Conti, Francesco, Corbetta, Sabrina, Fischetto, Rita, Foiadelli, Thomas, Gaudio, Agostino, Giannini, Cosimo, Grosso, Enrico, Guabello, Gregorio, Massuras, Stefania, Palermo, Andrea, Politano, Luisa, Pigliaru, Francesca, Ruggeri, Rosaria Maddalena, Scarano, Emanuela, Vicchio, Piera, Cannavò, Salvatore, Celli, Mauro, Petrizzelli, Francesco, Mastroianno, Mario, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433156/
https://www.ncbi.nlm.nih.gov/pubmed/37600704
http://dx.doi.org/10.3389/fendo.2023.1205977

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