Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease

BACKGROUND: Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate metabolism; PH1 is caused by mutations in the AGXT gene, PH2 in GRHPR and PH3 in HOGA1. METHODS: Here we report the first large multi-center cohort of Italian PH patients collected over 30 years (1992–20...

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Detalles Bibliográficos
Autores principales: Mandrile, Giorgia, Pelle, Alessandra, Sciannameo, Veronica, Benetti, Elisa, D’Alessandro, Maria Michela, Emma, Francesco, Montini, Giovanni, Peruzzi, Licia, Petrarulo, Michele, Romagnoli, Renato, Vitale, Corrado, Cellini, Barbara, Giachino, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995259/
https://www.ncbi.nlm.nih.gov/pubmed/35218550
http://dx.doi.org/10.1007/s40620-022-01258-4

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