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...
Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-01-01
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Series: | Nefrología (English Edition) |
Online Access: | http://www.sciencedirect.com/science/article/pii/S201325142030016X |