Neurological impairment in nephropathic cystinosis: motor coordination deficits

Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein. Cystine accumulates in cells throughout the body and causes progressive damage to multiple organs, including the bra...

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Detalles Bibliográficos
Autores principales: Trauner, Doris A., Williams, Jennifer, Ballantyne, Angela O., Spilkin, Amy M., Crowhurst, Jennifer, Hesselink, John
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923721/
https://www.ncbi.nlm.nih.gov/pubmed/20652328
http://dx.doi.org/10.1007/s00467-010-1589-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923721/
https://www.ncbi.nlm.nih.gov/pubmed/20652328
http://dx.doi.org/10.1007/s00467-010-1589-8

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