Results 121 to 130 of about 451,717 (162)
Some of the next articles are maybe not open access.
Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes
Molecular Genetics and Metabolism, 2007Citrin deficiency induces two clinical features; namely neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and adult-onset type II citrullinemia. Hypercitrullinemia is the most characteristic feature, whereas there are non-citrullinemic individuals.
Takeyori Saheki +2 more
exaly +3 more sources
The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study
Molecular Genetics and MetabolismCitrin deficiency is an autosomal recessive disorder caused by mutations in SLC25A13, encoding the inner mitochondrial membrane protein citrin. This disease manifests in age-dependent forms: neonatal intrahepatic cholestasis caused by citrin deficiency ...
Chikahiko Numakura, Naomi Kuranobu
exaly +2 more sources
Growth impairment in individuals with citrin deficiency
Journal of Inherited Metabolic Disease, 2019AbstractCitrin deficiency causes neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTTDCD), and adult‐onset type II citrullinemia (CTLN2). Owing to a defect in the NADH‐shuttle, citrin deficiency impairs hepatic glycolysis and de novo lipogenesis leading to hepatic energy deficit.
Tomoo Okada, Jun Murakami
exaly +3 more sources
2016
Citrin deficiency is an inborn error of metabolism that appears to affect both the urea cycle and energy generation. Worldwide, citrin deficiency is likely one of the commonest inborn errors of metabolism, 60,000–80,000 individuals are estimated to have citrin deficiency in China alone.
Adam H. Buchaklian, David P. Dimmock
openaire +1 more source
Citrin deficiency is an inborn error of metabolism that appears to affect both the urea cycle and energy generation. Worldwide, citrin deficiency is likely one of the commonest inborn errors of metabolism, 60,000–80,000 individuals are estimated to have citrin deficiency in China alone.
Adam H. Buchaklian, David P. Dimmock
openaire +1 more source
Citrin deficiency, a perplexing global disorder
Molecular Genetics and Metabolism, 2009Citrin deficiency, caused by mutations in SLC25A13, can present with neonatal intrahepatic cholestasis or with adult onset neuropsychiatric, hepatic and pancreatic disease. Until recently, it had been thought to be found mostly in individuals of East Asian ancestry.
DIMMOCK D +11 more
openaire +3 more sources
Metabolic basis and treatment of citrin deficiency
Journal of Inherited Metabolic Disease, 2020AbstractCitrin deficiency is a hereditary disorder caused by SLC25A13 mutations and manifests as neonatal intrahepatic cholestasis (NICCD), failure to thrive and dyslipidemia (FTTDCD), and adult‐onset type II citrullinemia (CTLN2). Citrin is a component of the malate‐aspartate nicotinamide adenine dinucleotide hydrogen (NADH) shuttle, an essential ...
openaire +2 more sources
Hemostatic rebalance in neonatal intrahepatic cholestasis with citrin deficiency
Pediatrics International, 2022AbstractBackgroundNeonatal intrahepatic cholestasis with citrin deficiency (NICCD) results in coagulopathy due to decreased levels of vitamin (V)K‐dependent clotting factors, similar to biliary atresia (BA). However, the involvement of VK‐independent coagulant and anticoagulant factor(s) remains unknown.
Hirosato Aoki +3 more
openaire +2 more sources
Reduced carbohydrate intake in citrin‐deficient subjects
Journal of Inherited Metabolic Disease, 2008SummaryCitrin is the liver‐type aspartate‐glutamate carrier that resides within the inner mitochondrial membrane. Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene SLC25A13) causes both adult‐onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD).
T, Saheki +10 more
openaire +2 more sources
Intrahepatic Cholestasis due to Citrin Deficiency
2020Portuguese Journal of Pediatrics, Vol. 51 No. 3 (2020)
Stilwell, Maria Do Rosário +6 more
openaire +1 more source