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Citrin deficiency

National Institutes of Health

Related topics

Related topics

1 relation
Adult-onset citrullinemia type 2

Papers overview

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2018
2018
Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency
Context Citrin-deficient infants present neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), which resolves at… 
2015
2015
Citrin deficiency presenting as acute liver failure in an eight-month-old infant.
Citrin deficiency typically presents as neonatal intrahepatic cholestasis and resolves in late infancy. Here we report a case of… 
2015
2015
CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE.
We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis… 
2015
2015
Identificationof a large deletion mutation of SLC25A13 gene in an infant with NeonatalIntrahepatic Cholestasis caused by Citrin Deficiency
2014
2014
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia☆
2013
2013
Tandem mass spectrometry and gas chromatography-mass spectrometry analysis in neonatal intrahepatic cholestasis caused by Citrin deficiency
Objective To investigate the diagnostic methods of neonatal intrahepatic cholestasis caused by Citrin deficiency(NICCD).Methods… 
2012
2012
Clinical Value of Galactitol Concentration in Urine Filter Paper Analyzed by Gas Chromatography-Mass Spectrometry in Screening Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
Objective To observe the difference of galactitol concentration analyzed by gas chromatography-mass spectrometry(GC/MS) on… 
2005
2005
Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood
Ketotic hypoglycaemia and hepatomegaly during childhood may be one of the symptoms of citrin deficiency. Adult-onset type II… 
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