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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Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Case Reports
Online adgang: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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