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Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation
We report a Russian patient with atypical onset of infantile nephropathic cystinosis. The disease debuted with vomiting and loss of weight and motor skills. Nephropathic changes appeared 6 months after onset of disease. Exome sequencing can be useful for diagnosing cystinosis in patients with neurol...
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| Yayımlandı: | Clin Case Rep |
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| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
John Wiley and Sons Inc.
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6132087/ https://ncbi.nlm.nih.gov/pubmed/30214781 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1678 |
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