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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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2015
2015
Identificationof a large deletion mutation of SLC25A13 gene in an infant with NeonatalIntrahepatic Cholestasis caused by Citrin Deficiency
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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