Cistinosis: Diagnostico

Garcia-Villoria J.

Monitorización de los niveles de cistina. Aspectos técnicos de interés para el clínico.

An. nefrol. Pediatr 2022; 1(4): 114-123

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Gertsman I, Johnson WS, Nishikawa C, Gangoiti JA, Holmes B, Barshop BA.

Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.

Clin Chem. 2016 ;62:766-72.

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García-Villoria J, Hernández-Pérez JM, Arias A, Ribes A.

Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometry.

Clin Biochem. 2013 ;46:271-4.

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Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ.

Analysis of the CTNS gene in 32 cystinosis patients from Spain.

Clin Genet. 2009 ;76:486-9. 

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