Clinical and molecular characterization of primary hyperoxaluria in Egypt

Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes (AGXT, GRHPR or HOGA1). The study aimed at characterizing the clinical phenotypes as well as the genotypic spectrum of PH in Egypt. We screened 25 Egyptian patie...

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Detalles Bibliográficos
Autores principales: Soliman, Neveen A., Elmonem, Mohamed A., Abdelrahman, Safaa M., Nabhan, Marwa M., Fahmy, Yosra A., Cogal, Andrea, Harris, Peter C., Milliner, Dawn S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508166/
https://www.ncbi.nlm.nih.gov/pubmed/36151119
http://dx.doi.org/10.1038/s41598-022-17980-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9508166/
https://www.ncbi.nlm.nih.gov/pubmed/36151119
http://dx.doi.org/10.1038/s41598-022-17980-9

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