Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria

Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospi...

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Detalles Bibliográficos
Autores principales: Kim, Ji Hyun, Park, Eujin, Hyun, Hye Sun, Lee, Beom Hee, Kim, Gu-Hwan, Lee, Joo Hoon, Park, Young Seo, Kang, Hee Gyung, Ha, Il-Soo, Cheong, Hae Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219998/
https://www.ncbi.nlm.nih.gov/pubmed/28049243
http://dx.doi.org/10.3346/jkms.2017.32.2.310

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5219998/
https://www.ncbi.nlm.nih.gov/pubmed/28049243
http://dx.doi.org/10.3346/jkms.2017.32.2.310

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