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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2018
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| 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 |