Results 111 to 120 of about 397 (122)
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Journal of Inherited Metabolic Disease, 2007
SummaryWe clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long‐term outcome of 75 patients. The data were generated from questionnaires to paediatricians in charge of the patients. Thirty of the patients were referred to hospitals before 1 month
Takeyori Saheki, D Abukawa, Y Tazawa
exaly +3 more sources
SummaryWe clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long‐term outcome of 75 patients. The data were generated from questionnaires to paediatricians in charge of the patients. Thirty of the patients were referred to hospitals before 1 month
Takeyori Saheki, D Abukawa, Y Tazawa
exaly +3 more sources
Nursing of an Infant Diagnosed with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) with Respiratory Syncytial Virus (RSV) Infection: A Case Report [PDF]
Clinical Medicine Research, 2021 Background: Citrin deficiency is an autosomal recessive genetic disorder caused by SLC25A13 genetic mutations. Understandably, Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) was one of its clinical phenotypes, usually occurred in the neonatal period or infancy.
Weiju Chen
exaly +2 more sources
Medicine (United States), 2017 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) primarily manifests in neonates or infants with hepatomegaly, liver dysfunction, and hypoglycemia. This study investigated the functions of islet beta cells and their correlations with liver dysfunction in NICCD patients.We retrospectively analyzed clinical data on liver function and
Ze-Jian Li
exaly +3 more sources
Molecular Genetics and Metabolism, 2011
Citrin is the liver-specific isoform of the mitochondrial aspartate/glutamate carrier (AGC2). 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).
Francescomassimo Lasorsa +2 more
exaly +6 more sources
Citrin is the liver-specific isoform of the mitochondrial aspartate/glutamate carrier (AGC2). 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).
Francescomassimo Lasorsa +2 more
exaly +6 more sources
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) [PDF]
Journal of Human Genetics, 2002 By using homozygosity mapping and positional cloning, we have shown that adult-onset type II citrullinemia (CTLN2) is caused by mutations of the SLC25A13 gene, which is localized on chromosome 7q21.3 and encodes a mitochondrial solute carrier protein named citrin.
Takeyori Saheki, Keiko Kobayashi
exaly +3 more sources
Insight into a “new disorder”—Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
The Journal of Pediatrics, 2006openaire +1 more source