Cystinosis: a review

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin...

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Detalles Bibliográficos
Autores principales: Elmonem, Mohamed A., Veys, Koenraad R., Soliman, Neveen A., van Dyck, Maria, van den Heuvel, Lambertus P., Levtchenko, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841061/
https://www.ncbi.nlm.nih.gov/pubmed/27102039
http://dx.doi.org/10.1186/s13023-016-0426-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841061/
https://www.ncbi.nlm.nih.gov/pubmed/27102039
http://dx.doi.org/10.1186/s13023-016-0426-y

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