Cargando…
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 CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting kidneys and other organs such as the eyes, endocr...
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864853/ https://www.ncbi.nlm.nih.gov/pubmed/36674769 http://dx.doi.org/10.3390/ijms24021253 |