Wei-xia Lin

Guangzhou, 510630, China

Last Updated: 09/26/2026

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Found 22 publications

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Identification of 13 novel pathogenic SLC25A13 variants and comparison of the genetic spectrum among different geographic regions: Molecular characterization of a large cohort of citrin deficiency in China.

Journal: Molecular genetics and metabolism

Published: June 14, 2025

Molecular Epidemiology of Na+-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1.

Molecular Epidemiology of Na+-Taurocholate Cotransporting Polypeptide Deficiency in Guangdong Province, China: A Pilot Study by Screening for Four Prevalent Variants of the Causative Gene SLC10A1.

Journal: Frontiers in genetics

Published: February 12, 2022

Physical and neuropsychological development of children with Citrin deficiency.

Physical and neuropsychological development of children with Citrin deficiency.

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: December 16, 2021

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.

Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: March 25, 2021

Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.

Molecular epidemiologic study of citrin deficiency by screening for four reported pathogenic SLC25A13 variants in the Shaanxi and Guangdong provinces, China.

Journal: Translational pediatrics

Published: February 07, 2021

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13.

Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13.

Journal: European journal of medical genetics

Published: September 06, 2020

DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review

DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: March 25, 2020

Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome

Clinical features and ABCC2 genotypic analysis of an infant with Dubin-Johnson syndrome

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: January 25, 2019

Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II

Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: September 14, 2018

Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

Clinical and genetic analysis of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: April 17, 2018

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Journal: Oncotarget

Published: August 08, 2017

Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1

Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: August 05, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026