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...

Descripción completa

Detalles Bibliográficos
Autores principales: Bondue, Tjessa, Kouraich, Anas, Berlingerio, Sante Princiero, Veys, Koenraad, Marie, Sandrine, Alsaad, Khaled O., Al-Sabban, Essam, Levtchenko, Elena, van den Heuvel, Lambertus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864853/
https://www.ncbi.nlm.nih.gov/pubmed/36674769
http://dx.doi.org/10.3390/ijms24021253

Ejemplares similares