The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the <i>CTNS</i> gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such...

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Bibliographic Details
Main Authors: Tjessa Bondue, Anas Kouraich, Sante Princiero Berlingerio, Koenraad Veys, Sandrine Marie, Khaled O. Alsaad, Essam Al-Sabban, Elena Levtchenko, Lambertus van den Heuvel
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:International Journal of Molecular Sciences
Subjects:
cystinosis
cysteamine
cystine
nephropathic cystinosis
Online Access:https://www.mdpi.com/1422-0067/24/2/1253

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