Feng-ping Chen
Guangzhou, 510630, China
Last Updated: 09/26/2026
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Found 10 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.
Journal: Molecular genetics and metabolism
Published: June 14, 2025
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.
Journal: European journal of medical genetics
Published: September 06, 2020
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.
Journal: Scientific reports
Published: May 06, 2016
SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency.
Journal: Molecular medicine reports
Published: August 06, 2015
Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiency.
Journal: Experimental and therapeutic medicine
Published: June 06, 2015
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency.
Journal: The Tohoku journal of experimental medicine
Published: August 12, 2014
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.
Journal: International journal of molecular medicine
Published: May 23, 2014
Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
Journal: PloS one
Published: November 17, 2013
SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.
Journal: PloS one
Published: May 31, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026