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Clinical, Biochemical, and Genetic Findings of Cystinuria in Chinese Children.

Clinical laboratory - 1 Jul 2018

Ma Yan-Yan, Liu Yu-Peng, Li Dongxiao, Li Xi-Yuan, Song Jin-Qing, Yang Yan-Ling

Abstract excerpt

BACKGROUND: Cystinuria is a rare inherited renal stone disease caused by mutations in the SLC3A1 and SLC7A9 genes. The Chinese cystinuria phenotype and genotype have rarely been reported in the literature. METHODS: For this research, the clinical features and genetic etiology were analyzed in seven children, and the clinical characteristics were summarized. The blood and urine amino acids and acylcarnitine were...

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PMID: 30146843
DOI: 10.7754/Clin.Lab.2018.180110

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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