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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

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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… 
2015
2015
AB087. Most common SLC25A13 mutation in 695 Vietnamese patients with NICCD.
Background and objective Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in… 
2014
2014
Table 4. [Measurements of Hepatic Cell Function at Age 0-6 Months in NICCD].
2014
2014
Table 2. [Plasma Concentrations of Threonine, Methionine, and Tyrosine at Age 0-6 Months in NICCD].
2009
2009
Value of biochemical markers in the diagnosis of biliary atresia and NICCD
Objective To evaluate the value of biochemical markers in the diagnosis of biliary atresia(BA) and neonatal intrahepatic… 
2008
2008
The analysis on the galactitol concentration in the urine sample of patient with NICCD
Objective:Galactitol concentration in the urine sample of patient with NICCD(neonatal intrahepatic cholestasis is caused by… 
2008
2008
Analysis SLC25A13 gene mutation in suspected patients of NICCD
Objective To establish a method of molecular diagnosis of the disease by analyzing the gene mutations in 19 suspected patient of… 
2007
2007
A case of neonatal intrahepatic cholestasis caused by citrin deficiency : NICCD
2003
2003
シトルリン血症 : Citrin 欠損症を中心として
2001
2001
Citrin 欠損症-新生児マススクリーニングを契機に発見された Citrin 欠損による新生児肝内胆汁うっ滞症 : 9症例の検討