Cystinosis and two rare mutations in CTNS gene: two case reports

BACKGROUND: Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transport. The responsible gene, Cystinosin, Lysosomal Cystine Tra...

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Detalles Bibliográficos
Autores principales: Gholami Yarahmadi, Sepideh, Sarlaki, Fatemeh, Morovvati, Saeid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9074344/
https://www.ncbi.nlm.nih.gov/pubmed/35513889
http://dx.doi.org/10.1186/s13256-022-03379-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9074344/
https://www.ncbi.nlm.nih.gov/pubmed/35513889
http://dx.doi.org/10.1186/s13256-022-03379-7

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