Cargando…
Cystinosis: the evolution of a treatable disease
Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease...
Autores principales: | Nesterova, Galina, Gahl, William A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer-Verlag
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505515/ https://www.ncbi.nlm.nih.gov/pubmed/22903658 http://dx.doi.org/10.1007/s00467-012-2242-5 |
Ejemplares similares
-
Newborn Screening: Review of its Impact for Cystinosis
por: Hohenfellner, Katharina, et al.
Publicado: (2022) -
Cystinosis: practical tools for diagnosis and treatment
por: Wilmer, Martijn J., et al.
Publicado: (2010) -
Management of bone disease in cystinosis: Statement from an international conference
por: Hohenfellner, Katharina, et al.
Publicado: (2019) -
Fertility in Cystinosis
por: Reda, Ahmed, et al.
Publicado: (2021) -
Cystinosis: a review
por: Elmonem, Mohamed A., et al.
Publicado: (2016)