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Late-Onset Nephropathic Cystinosis: Clinical Presentation, Outcome, and Genotyping
Background and objectives: Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of on...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society of Nephrology
2008
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2390982/ https://ncbi.nlm.nih.gov/pubmed/18178779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.01740407 |
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