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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Elmonem, Mohamed A., Veys, Koenraad R., Soliman, Neveen A., van Dyck, Maria, van den Heuvel, Lambertus P., Levtchenko, Elena
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4841061/
https://ncbi.nlm.nih.gov/pubmed/27102039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0426-y
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