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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2022
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Materias: | |
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 |