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Article

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.

Journal of Korean medical science - 1 Feb 2017

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

Abstract excerpt

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 Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed....

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Identifiers

PMID: 28049243
DOI: 10.3346/jkms.2017.32.2.310
PMCID: PMC5219998

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