Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
S Tavoulari, D Lacabanne, C Thangaratnarajah… - Trends in Endocrinology …, 2022 - cell.com
Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three
different stages: neonatal intrahepatic cholestasis (NICCD), a relatively mild adaptation …
different stages: neonatal intrahepatic cholestasis (NICCD), a relatively mild adaptation …
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
Y Lin, Y Liu, L Zhu, K Le, Y Shen… - Journal of inherited …, 2020 - Wiley Online Library
To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic
cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) …
cholestasis, caused by citrin deficiency (NICCD), into the current newborn screening (NBS) …
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
WX Lin, HS Zeng, ZH Zhang, M Mao, QQ Zheng… - Scientific Reports, 2016 - nature.com
Citrin deficiency (CD) is a Mendelian disease due to biallelic mutations of SLC25A13 gene.
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major pediatric …
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major pediatric …
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
MHT Nguyen, AHP Nguyen, DN Ngo… - Journal of human …, 2023 - nature.com
Background Citrin deficiency (CD), a disorder caused by mutations in the SLC25A13 gene,
may result in neonatal intrahepatic cholestasis. This study was purposely to explore the …
may result in neonatal intrahepatic cholestasis. This study was purposely to explore the …
Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition
J Kido, G Makris, S Santra… - Journal of Inherited …, 2024 - Wiley Online Library
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting
from mutations in SLC25A13. The clinical manifestation is very variable and comprises three …
from mutations in SLC25A13. The clinical manifestation is very variable and comprises three …
Genetic Variations and Frequencies of the Two Functional Single Nucleotide Polymorphisms of SLCO1B1 in the Thai Population
C Na nakorn, J Waisayarat, C Dejthevaporn… - Frontiers in …, 2020 - frontiersin.org
Aim To investigate the variations and the frequencies of the SLCO1B1 gene in the Thai
population. Methods Collected samples were categorized into five regions of Thailand. DNA …
population. Methods Collected samples were categorized into five regions of Thailand. DNA …
Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals
Y Yamaguchi-Kabata, J Yasuda, A Uruno… - Human Genetics, 2019 - Springer
Incidence rates of Mendelian diseases vary among ethnic groups, and frequencies of variant
types of causative genes also vary among human populations. In this study, we examined to …
types of causative genes also vary among human populations. In this study, we examined to …
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology
SC Chen, XY Zhou, SY Li, MM Zhao, HF Huang… - Journal of Assisted …, 2023 - Springer
Background Expanded carrier screening (ECS) has become a common practice for
identifying carriers of monogenic diseases. However, existing large gene panels are not well …
identifying carriers of monogenic diseases. However, existing large gene panels are not well …
Screening for five prevalent mutations of SLC25A13 gene in Guangdong, China: a molecular epidemiologic survey of citrin deficiency
ZH Zhang, ZG Yang, FP Chen, A Kikuchi… - The Tohoku Journal of …, 2014 - jstage.jst.go.jp
Citrin is the liver-type aspartate/glutamate carrier isoform 2 (AGC2) encoded by SLC25A13
gene, playing important roles in the urea cycle and the malate-aspartate shuttle. Citrin …
gene, playing important roles in the urea cycle and the malate-aspartate shuttle. Citrin …
Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a …
HS Zeng, ST Zhao, M Deng… - International …, 2014 - spandidos-publications.com
Biallelic mutations of the SLC25A13 gene result in citrin deficiency (CD) in humans.
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD …
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD …