Related references
Note: Only part of the references are listed.Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis
Qinlong Zeng et al.
FRONTIERS IN PEDIATRICS (2021)
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
Yiming Lin et al.
BMC PEDIATRICS (2020)
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2
Yoshiyuki Okano et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry
Hiroko Shigetomi et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2018)
Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution
Wei-Xia Lin et al.
SCIENTIFIC REPORTS (2016)
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
Han-Shi Zeng et al.
INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE (2014)
Expanded newborn screening in New South Wales: missed cases
Jane Estrella et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Screening for Five Prevalent Mutations of SLC25A13 Gene in Guangdong, China: A Molecular Epidemiologic Survey of Citrin Deficiency
Zhan-Hui Zhang et al.
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE (2014)
SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
Yuan-Zong Song et al.
PLOS ONE (2013)
Different regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis
Rui Chen et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2013)
Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
Atsuo Kikuchi et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Citrin deficiency, a perplexing global disorder
David Dimmock et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
YB Lu et al.
JOURNAL OF HUMAN GENETICS (2005)
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients
Y Tazawa et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency
A Tamamori et al.
PEDIATRIC RESEARCH (2004)
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
T Saheki et al.
JOURNAL OF HUMAN GENETICS (2002)
Share Paper
