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pro vyhledávání: '"Nikishina A. Tatiana"'
Autor:
Kozina A. Anastasiya, Ilinsky V. Valery, Baryshnikova V. Natalia, Krasnenko Yu. Anna, Tsukanov Yu. Kirill, Nikishina A. Tatiana, Shatalov A. Peter, Fedoniuk D. Inessa, Klimchuk I. Olesya, Okuneva G. Elena, Surkova I. Ekaterina
Publikováno v:
Clinical Case Reports
Key Clinical Message 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 seq