Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
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α-Ketoglutaramate: an overlooked metabolite of glutamine and a biomarker for hepatic encephalopathy and inborn errors of the urea cycleSlc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemiaClinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)Proteomic analysis of iron overload in human hepatoma cells.Interpreting metabolomic profiles using unbiased pathway models.Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis.AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among Thai infants.Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular testsGenetic determinants of hepatic steatosis in man.Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Citrin deficiency presenting as acute liver failure in an eight-month-old infant.Anesthetic experience of an adult male with citrullinemia type II: a case report.Argininosuccinate synthase conditions the response to acute and chronic ethanol-induced liver injury in miceCloning and sequence analysis of SLC25A13 transcripts in human amniocytes.Mitochondrial transporters as novel targets for intracellular calcium signaling.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 StudyDifferent regional distribution of SLC25A13 mutations in Chinese patients with neonatal intrahepatic cholestasis.Molecular diagnosis of pediatric patients with citrin deficiency in China: SLC25A13 mutation spectrum and the geographic distribution.Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.Screening of SLC25A13 mutation in the Thai population.Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome.Hypermethioninemias of genetic and non-genetic origin: A review.Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.Liver transplantation in an adult with citrullinaemia type 2.Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.Molecular diagnosis of citrin deficiency in an infant with intrahepatic cholestasis: identification of a 21.7kb gross deletion that completely silences the transcriptional and translational expression of the affected SLC25A13 allele.Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency.Outcome of hepatobiliary scanning: preterm versus full-term cholestatic infants.Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate.Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier.Analysis of islet beta cell functions and their correlations with liver dysfunction in patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.Sudden development of adult-onset type II citrullinemia after total gastrectomy: a case report.Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.A case of adult-onset type II citrullinemia induced by hospital diet.Patient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantation.
P2860
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P2860
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
description
2002 թուականին հրատարակուած գիտական յօդուած
@hyw
2002 թվականին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2002
@ast
im Januar 2002 veröffentlichter wissenschaftlicher Artikel
@de
scientific article (publication date: 2002)
@en
vedecký článok (publikovaný 2002)
@sk
vědecký článek publikovaný v roce 2002
@cs
wetenschappelijk artikel (gepubliceerd in 2002)
@nl
наукова стаття, опублікована у 2002
@uk
مقالة علمية (نشرت عام 2002)
@ar
name
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@ast
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@en
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@nl
type
label
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@ast
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@en
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@nl
prefLabel
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@ast
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@en
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@nl
P3181
P356
P1476
Mitochondrial aspartate glutam ...... hic neonatal hepatitis (NICCD)
@en
P2093
Keiko Kobayashi
Takeyori Saheki
P2888
P304
P3181
P356
10.1007/S100380200046
P407
P577
2002-01-01T00:00:00Z