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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Опубликовано в: :Clin Case Rep
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2018
Предметы:
Case Reports
Online-ссылка: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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