Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
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Title
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency
Authors
Keywords
-
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-12-17
DOI
10.1002/jimd.12206
References
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Related references
Note: Only part of the references are listed.- Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications
- (2019) Kuerbanjiang Abuduxikuer et al. BMC Pediatrics
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- Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2
- (2019) Yoshiyuki Okano et al. MOLECULAR GENETICS AND METABOLISM
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- (2017) Yung-Hsiu Lu et al. JOURNAL OF HUMAN GENETICS
- Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
- (2016) Wei-Xia Lin et al. Scientific Reports
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- (2014) Jane Estrella et al. JOURNAL OF INHERITED METABOLIC DISEASE
- High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry
- (2014) Sheng-Hung Lee et al. MOLECULAR GENETICS AND METABOLISM
- Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
- (2013) Li-Yun Wang et al. BMC Medical Genetics
- SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
- (2013) Yuan-Zong Song et al. PLoS One
- Screening ofSLC25A13mutation in the Thai population
- (2013) Parith Wongkittichote WORLD JOURNAL OF GASTROENTEROLOGY
- Different regional distribution ofSLC25A13mutations in Chinese patients with neonatal intrahepatic cholestasis
- (2013) Rui Chen WORLD JOURNAL OF GASTROENTEROLOGY
- Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
- (2012) Szu-Ta Chen et al. JOURNAL OF PEDIATRICS
- Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
- (2012) Atsuo Kikuchi et al. MOLECULAR GENETICS AND METABOLISM
- Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
- (2011) David M S McHugh et al. GENETICS IN MEDICINE
- High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan
- (2010) Jing-Ting Lin et al. CLINICA CHIMICA ACTA
- Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
- (2008) Michiharu Komatsu et al. JOURNAL OF HEPATOLOGY
- Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
- (2008) Ayako Tabata et al. JOURNAL OF HUMAN GENETICS
- Citrin deficiency, a perplexing global disorder
- (2008) David Dimmock et al. MOLECULAR GENETICS AND METABOLISM
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