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Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study

BACKGROUND: Primary hyperoxalurias (PHs) constitute rare disorders resulting in abnormal glyoxalate metabolism. PH-associated phenotypes range from progressive nephrocalcinosis and/or recurrent urolithiasis to early kidney failure. METHODS: A retrospective study was conducted for patients with confi...

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Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Umair, Muhammad, Alghamdi, Malak A., Al Fakeeh, Khalid, Al Qahtani, Abdullah T., Farahat, Afrah, Shalaby, Mohamed A., Kari, Jameela A., Raina, Rupesh, Cochat, Pierre, Alhasan, Khalid A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154271/
https://www.ncbi.nlm.nih.gov/pubmed/36409364
http://dx.doi.org/10.1007/s00467-022-05784-y