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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Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Anastasiya, Kozina A., Elena, Okuneva G., Natalia, Baryshnikova V., Anna, Krasnenko Yu., Kirill, Tsukanov Yu., Olesya, Klimchuk I., Tatiana, Nikishina A., Inessa, Fedoniuk D., Ekaterina, Surkova I., Peter, Shatalov A., Valery, Ilinsky V.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2018
Konular:
Case Reports
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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