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Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation
INTRODUCTION: Primary hyperoxaluria type 1 (PH1) is a genetic autosomal recessively inherited disorder due to mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. It usually presents in children with nephrolithiasis and/or nephrocalcinosis and progressive renal function impairment and en...
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| Publicado no: | Medicine (Baltimore) |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Health
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7310847/ https://ncbi.nlm.nih.gov/pubmed/32569165 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000020371 |
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