Results 41 to 50 of about 1,678 (140)
, 1999 Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset type II citrullinemia (CTLN2) is a form of the disease that is defined by a quantitative decrease in ASS protein, but with ...
Saheki, T +6 more
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Frontiers in Molecular Biosciences, 2022 Introduction: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a pan-ethnic complicated inborn error of metabolism but the specific mechanism is not fully understood.Methods: A total of 169 patients with NICCD who have biallelic ...
Ting Zhang +9 more
doaj +1 more source
Update of SLC25A13 mutations in patients with citrin deficiency.
, 2013 Update of SLC25A13 mutations in patients with citrin deficiency.
Mei Deng (460870) +16 more
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Adult onset episodic encephalopathy due to citrin deficiency—A case report
Annals of Indian Academy of Neurology, 2023 Hyperammonemia is a rare cause of adult episodic encephalopathy. Citrin deficiency resulting in citrullinemia type 2 (CTLN2) can lead to recurrent delirium in adults.
Dipti Baskar +11 more
doaj +1 more source
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Molecular Genetics and Metabolism Reports, 2023 The deficiency of CITRIN, the liver mitochondrial aspartate–glutamate carrier (AGC), is the cause of four human clinical phenotypes, neonatal intrahepatic cholestasis caused by CITRIN deficiency (NICCD), silent period, failure to thrive and dyslipidemia ...
Luis González-Moreno +13 more
doaj +1 more source
Frequency and proportion of the mutated SLC25A13 alleles in the large Chinese Pediatric cohort.
, 2013 *Among the 116 patients, there were 3 siblings from 3 families. Therefore, the cohort comprised 226 mutated SLC25A13 alleles in total, including 6 unknown ones.
Mei Deng (460870) +16 more
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Cancer carrier screening in the general population using whole‐genome sequencing
Cancer Medicine, 2023 Background Cancer is a major cause of death, and its early identification and intervention have potential for clinical actionability and benefits for human health.
Ya‐Sian Chang +11 more
doaj +1 more source
Germline variants predictive of tumor mutational burden and immune checkpoint inhibitor efficacy
iScience, 2021 Summary: High tumor mutational burden (TMB) is associated with response to checkpoint blockade in several cancers. We identify pathogenic germline variants associated with increased TMB (GVITMB).
Ajay Chatrath +2 more
doaj +1 more source
, 2004 Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of
Li, MX +10 more
core +1 more source