Hematological involvement in nephropathic cystinosis: new insights
Abstract Nephropathic cystinosis (NC) is a rare autosomal recessive lysosomal storage disease characterized by defective lysosomal efflux of cystine due to variations in the CTNS gene encoding the lysosomal cystine transporter, cystinosin. This leads to pathological crystal accumulation in almost al...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer
2024-09-01
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| coleção: | Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1007/s44162-024-00051-0 |
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