Xiyuan Li

Tianjin, China

Last Updated: 09/26/2026

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Found 26 publications

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

Journal: Orphanet journal of rare diseases

Published: August 03, 2022

Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria

Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 01, 2022

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.

Journal: PloS one

Published: December 06, 2021

Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.

Identification of a novel homozygous nonsense variant in a Chinese patient with ethylmalonic encephalopathy and a genotype-phenotype spectrum review.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 11, 2020

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.

Journal: Orphanet journal of rare diseases

Published: March 16, 2020

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.

Eleven novel mutations and clinical characteristics in seven Chinese patients with thiamine metabolism dysfunction syndrome.

Journal: European journal of medical genetics

Published: January 31, 2020

One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: September 26, 2019

Somatic variants in new candidate genes identified in focal cortical dysplasia type II.

Somatic variants in new candidate genes identified in focal cortical dysplasia type II.

Journal: Epilepsia

Published: August 09, 2019

A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.

A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.

Journal: The Tohoku journal of experimental medicine

Published: December 14, 2018

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.

Journal: Gene

Published: May 09, 2018

Human umbilical cord mesenchymal stem cells facilitate the up-regulation of miR-153-3p, whereby attenuating MGO-induced peritoneal fibrosis in rats.

Human umbilical cord mesenchymal stem cells facilitate the up-regulation of miR-153-3p, whereby attenuating MGO-induced peritoneal fibrosis in rats.

Journal: Journal of cellular and molecular medicine

Published: January 16, 2018

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.

A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.

Journal: European journal of medical genetics

Published: February 08, 2017

Showing 1-12 of 26

Last Updated: 09/26/2026