Primary Hyperoxaluria Type 1 in 18 Children: Genotyping and Outcome

Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterog...

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Detalles Bibliográficos
Autores principales: Al Riyami, Mohamed S., Al Ghaithi, Badria, Al Hashmi, Nadia, Al Kalbani, Naifain
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396551/
https://www.ncbi.nlm.nih.gov/pubmed/25918646
http://dx.doi.org/10.1155/2015/634175

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