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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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wiley
2015-01-01
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| Collection: | International Journal of Nephrology |
| Accès en ligne: | http://dx.doi.org/10.1155/2015/634175 |
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