Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene

Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13...

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Detalles Bibliográficos
Autores principales: Lee, Eun Ha, Kim, Yeun Hee, Hwang, Jin Soon, Kim, Sung Hwan
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800027/
https://www.ncbi.nlm.nih.gov/pubmed/20052367
http://dx.doi.org/10.3346/jkms.2010.25.1.172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800027/
https://www.ncbi.nlm.nih.gov/pubmed/20052367
http://dx.doi.org/10.3346/jkms.2010.25.1.172

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