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Hyperoxaluria by the AGXT gene: a case report

Abstract Background This report details a case of AGXT gene mutation in a male patient, 9 years 6 months old, Portuguese ethnicity, with history of nephrocalcinosis and recurrent nephrolithiasis in childhood, which progressed to chronic kidney disease. It illustrates the diagnostic and therapeutic i...

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Autors principals: Alessandra Vitorino Naghettini, Alice Leite Mesquita, Andrielle Nunes Santos, Juliana Vieira Peixoto Moreira, Maysa Campos Mota de Oliveira, Patrícia Marques Fortes
Format: Artigo
Idioma:Inglês
Publicat: BMC 2026-01-01
Col·lecció:Journal of Medical Case Reports
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Accés en línia:https://doi.org/10.1186/s13256-025-05796-w
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