Results 31 to 40 of about 1,678 (140)
Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients. [PDF]
Clin GenetGenetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Abdmouleh A +12 more
europepmc +2 more sources
BMC Pediatrics, 2019 Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants.
Linlin Zhang +8 more
doaj +1 more source
PLoS ONE, 2014 Background and objectiveSLC25A13 analysis has provided reliable evidences for the definitive diagnosis of citrin deficiency (CD) in the past decade.
Zhan-Hui Zhang +6 more
doaj +1 more source
BMC Pediatrics, 2021 Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis ...
Ryosuke Miyamoto +6 more
doaj +1 more source
Citrin deficiency mimicking mitochondrial depletion syndrome
BMC Pediatrics, 2020 Background Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin.
S. C. Grünert +13 more
doaj +1 more source
Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia
Open Medicine, 2021 Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2
Chen Pingrun +3 more
doaj +1 more source
Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency. [PDF]
Nat MetabCitrin deficiency (CD) is caused by the inactivation of SLC25A13, a mitochondrial membrane protein required to move electrons from cytosolic NADH to the mitochondrial matrix in hepatocytes. People with CD do not like sweets.
Tiwari V +11 more
europepmc +2 more sources
DataSheet1_Identification of Novel Mutations in Chinese Infants With Citrullinemia.PDF
, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Xiwen He (1485397) +6 more
core +1 more source
Frontiers in Genetics, 2019 Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by the gene SLC10A1, is expressed in the basolateral membrane of the hepatocyte to uptake bile acids from plasma.
Hui Lin +7 more
doaj +1 more source
DataSheet2_Identification of Novel Mutations in Chinese Infants With Citrullinemia.docx
, 2022 Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Xiwen He (1485397) +6 more
core +1 more source