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Article

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.

Urolithiasis - 24 Oct 2023

Wu Jiayu, Song Jing, He Yanzhao, Zhong Cheng, Yang Qin, Li Qiu, Wang Mo

Abstract excerpt

Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 (PH1) in China, this study discussed the clinical and genetic characteristics of this disease retrospectively. We reported and validated a novel genetic variation c.302 T > G: the clinical phenotypes of the two siblings were similar, in which both had onset in infancy, mainly manifested as renal insufficiency, and...

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Identifiers

PMID: 37874369
DOI: 10.1007/s00240-023-01494-8
PMCID: PMC10598140

Provenance

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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