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...
保存先:
| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Wiley
2015-01-01
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| シリーズ: | International Journal of Nephrology |
| オンライン･アクセス: | http://dx.doi.org/10.1155/2015/634175 |
| タグ: |
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