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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-01-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/24/2/1253 |