|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two of them have NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency); three of them have CTLN2 (adult-onset type II citrullinemia).
|
31809266 |
2020 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A compound heterozygous mutation in the SLC25A13 gene was identified in a 4-month-old female patient with NICCD.
|
31607264 |
2019 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
ALT, LDL-C and Non-HDL-C levels in NICCD group were lower than the INC group, while SLC25A13 mutations were associated with the level of GGT ( P < 0.05).
|
28516797 |
2017 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present study aimed to examine SLC25A13 mutations in an infant with a suspected diagnosis of NICCD.
|
27779681 |
2016 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study.
|
27127784 |
2016 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings enriched the SLC25A13 mutation spectrum and brought new insights into the geographic distribution of the variations and genotypes, providing reliable evidences for NICCD definite diagnosis and for the determination of relevant molecular targets in different Chinese areas.
|
27405544 |
2016 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC25A13, the gene encoding AGC2, result in two age dependent disorders: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and type II citrullinemia (CTLN2).
|
23053473 |
2013 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].
|
24327139 |
2013 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To study the prevalence of NICCD and SLC25A13 mutations in Thai infants, and to compare manifestations of NICCD and non-NICCD, infants with idiopathic cholestatic jaundice or INH were enrolled.
|
23067347 |
2012 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
Biomarker
|
disease |
BEFREE |
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disease caused by the dysfunction of citrin, an aspartate/glutamate carrier encoded by the SLC25A13 gene.
|
22710133 |
2012 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has two disease outcomes: adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency.
|
22277121 |
2012 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).
|
20927635 |
2011 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
Biomarker
|
disease |
BEFREE |
AGC2 deficiency is an autosomal recessive disorder with two age related phenotypes: neonatal intrahepatic cholestasis (NICCD, OMIM#605814) and adult-onset type II citrullinemia (CTLN2, OMIM#603471).
|
21914561 |
2011 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
|
21507300 |
2011 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
Biomarker
|
disease |
BEFREE |
DNAs from healthy subjects (n=479), and patients with hepatocellular carcinoma (HCC, n=100) and NICCD (n=5) were scanned in exons 6, 9, 11, 16, and 17 and parts of introns of SLC25A13 using HRM analysis.
|
21134364 |
2011 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation study of the SLC25A13 gene showed the compound heterozygotes, 851del4 and IVS16ins3kb, which confirmed the diagnosis of NICCD in the patient and her three-year-old female sibling, who also had unexplained neonatal cholestasis.
|
20200759 |
2010 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
Biomarker
|
disease |
BEFREE |
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a novel inborn error of metabolism due to dysfunction of citrin protein, and much more information about this new disease is still needed for its clinical management.
|
19185551 |
2009 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on chromosome 7q21.3 and has two phenotypes: neonatal intrahepatic cholestatic hepatitis (NICCD) and adult-onset type II citrullinemia (CTLN2).
|
18392553 |
2008 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene.
|
18162705 |
2007 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Citrin deficiency resulting from mutations of the SLC25A13 gene is associated with two major clinical phenotypes; neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type 2 citrullinemia (CTLN2).
|
17982687 |
2007 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The 851del4 mutation on the SLC25A13 gene accounts for the major genotype expression of patients with NICCD in Taiwan.
|
16737877 |
2006 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD).
|
16059747 |
2005 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of citrin due to mutations of the SLC25A13 gene causes adult-onset type II citrullinemia (CTLN2) and one type of neonatal intrahepatic cholestasis (NICCD).
|
15295082 |
2004 |
|
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A deficiency of citrin, which is encoded by the SLC25A13 gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
|
15542392 |
2004 |