Implementation of a method to quantify white blood cell cystine as a diagnostic support for cystinosis

Background and aims: Cystinosis is an inborn error of metabolism, clinically characterised by severe renal involvement and development of corneal cystine deposits, especially in the adult form of the disease. Cystinosis is a treatable condition. Therefore, an early diagnosis is necessary to start th...

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Bibliographic Details
Main Authors: Johana Maria Guevara-Morales, Olga Yaneth Echeverri-Peña
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Nefrología (English Edition)
Online Access:http://www.sciencedirect.com/science/article/pii/S201325142030016X