Xiuzhen Z. Li

Guangzhou, China

Last Updated: 09/26/2026

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Found 32 publications

Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.

Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.

Journal: Translational pediatrics

Published: November 24, 2025

Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review.

Clinical and molecular characteristics of Chinese patients with alkaptonuria: 4-year follow-up of a pediatric patient and literature review.

Journal: Molecular genetics and metabolism reports

Published: September 18, 2025

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.

Clinical phenotype and molecular genetic analysis of 24 cases of Beckwith-Wiedemann syndrome.

Journal: Translational pediatrics

Published: April 03, 2025

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Journal: Orphanet journal of rare diseases

Published: March 23, 2025

Comparison and evaluation of neutralization of clinically frequently used antimicrobial agents using three different culture media in simulated blood cultures.

Comparison and evaluation of neutralization of clinically frequently used antimicrobial agents using three different culture media in simulated blood cultures.

Journal: Microbiology spectrum

Published: August 27, 2024

Natural history and outcome of nonketotic hyperglycinemia in China.

Natural history and outcome of nonketotic hyperglycinemia in China.

Journal: Frontiers in neurology

Published: May 30, 2024

Relationships between degree of polymerization and activities: A study on condensed tannins from the bark of Ficus altissima.

Relationships between degree of polymerization and activities: A study on condensed tannins from the bark of Ficus altissima.

Journal: International journal of biological macromolecules

Published: April 26, 2024

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Journal: Orphanet journal of rare diseases

Published: January 11, 2024

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.

Journal: European journal of medical genetics

Published: October 09, 2023

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.

Journal: Frontiers in genetics

Published: October 31, 2022

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.

Journal: European journal of ophthalmology

Published: October 20, 2022

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

Journal: Clinical genetics

Published: May 25, 2022

Showing 1-12 of 32

Last Updated: 09/26/2026