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Jane Estrella et al.
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Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
Li-Yun Wang et al.
BMC MEDICAL GENETICS (2013)
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Yuan-Zong Song et al.
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Screening of SLC25A13 mutation in the Thai population
Parith Wongkittichote et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2013)
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Rui Chen et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2013)
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Szu-Ta Chen et al.
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Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13
Atsuo Kikuchi et al.
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Jing-Ting Lin et al.
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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David M. S. McHugh et al.
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David Dimmock et al.
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Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
Michiharu Komatsu et al.
JOURNAL OF HEPATOLOGY (2008)
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Ayako Tabata et al.
JOURNAL OF HUMAN GENETICS (2008)
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
T. Ohura et al.
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Citrin deficiency: A novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet
David Dimmock et al.
PEDIATRICS (2007)
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)
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C Jurinke et al.
MOLECULAR BIOTECHNOLOGY (2004)
Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency
A Tamamori et al.
PEDIATRIC RESEARCH (2004)
Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency
T Saheki et al.
METABOLIC BRAIN DISEASE (2002)
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
N Yamaguchi et al.
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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.
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Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
Y Tazawa et al.
JOURNAL OF PEDIATRICS (2001)
Neonatal presentation of adult-onset type II citrullinemia
T Ohura et al.
HUMAN GENETICS (2001)