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CITRULLINEMIA, TYPE II, NEONATAL-ONSET

Known as: Neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD, Cholestasis, Neonatal Intrahepatic, caused by Citrin Deficiency 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal recessive inheritanceFailure to ThriveIntrahepatic CholestasisLiver Cirrhosis

Broader (1)

Citrullinemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Tandem mass spectrometry screening of 565 182 newborns for inherited metabolic diseases in Hunan province
Objective To investigate the prevalence, mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by… 
2018
2018
[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].
OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency… 
2017
2017
Bile acid profiles in neonatal intrahepatic cholestasis caused by citrin deficiency.
2015
2015
Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant
To the Editor: Tandem mass spectrometry (MS/MS)-based expanded newborn screening was first introduced in Pediatric Endocrinology… 
2014
2014
A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing.
2011
2011
Prenatal diagnosis of citrin deficiency in a Chinese family with a fatal proband.
Citrin deficiency (CD) is an autosomal recessive disorder with SLC25A13 as causative gene that encodes citrin, the liver-type… 
2011
2011
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
OBJECTIVE Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can… 
2007
2007
[SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency].
OBJECTIVE Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD, MIM#605814) is an inherited metabolic disease… 
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… 
2005
2005
A possible mechanism of neonatal intrahepatic cholestasis caused by citrin deficiency.
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