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Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disease caused by a mutation in the AGXT gene, resulting in deficiency of the alanineglyoxylate:aminotransferase enzyme. It is characterized by accumulation of oxalate in the kidneys and other organs. CASE PRESENTATION: A S...

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Detalles Bibliográficos
Autores principales: Hasan, Asma, Maynard, Sharon, Santoriello, Dominick, Schairer, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206957/
https://www.ncbi.nlm.nih.gov/pubmed/30397603
http://dx.doi.org/10.1159/000493091

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