Publications by authors named "Yunjia Ouyang"
[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
April 2024
Article Synopsis
- The study investigated Citrin deficiency in neonates from Henan province, China, screening 986,565 infants to determine its prevalence, clinical features, and genetic variations.
- Nine cases were diagnosed, all showing elevated citrulline levels, with six genetic variants identified, including both known and previously unreported mutations.
- Post-treatment, all patients showed significant clinical improvement and normalizing amino acid profiles, leading to a favorable prognosis by mid-2022.