Yanru Chen
700 Fengze Street
Quanzhou, 362000, China
Quanzhou, 362000, China
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Pathogenic Analysis of Two SLC22A5 Variants That Alter RNA Splicing in Patients with Primary Carnitine Deficiency.
Journal: International journal of neonatal screening
Published: January 27, 2026
Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.
Journal: Molecular genetics and metabolism reports
Published: May 05, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Journal: Heliyon
Published: September 03, 2023
Incorporating second-tier genetic screening for multiple acyl-CoA dehydrogenase deficiency.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 04, 2022
Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Journal: Orphanet journal of rare diseases
Published: January 25, 2022
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Journal: Orphanet journal of rare diseases
Published: September 29, 2021
Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency.
Journal: Frontiers in pediatrics
Published: September 07, 2021
Newborn screening for primary carnitine deficiency in Quanzhou, China.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: September 02, 2020
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn.
Journal: BMC pediatrics
Published: April 08, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026