×
About 8 results

ALLMedicine™ Adult-onset Citrullinemia Type Ii Center

Research & Reviews  4 results

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian pati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777997
PloS One; Song YZ, Zhang ZH et. al.

Sep 26th, 2013 - The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes s...

Citrullinemia type II
https://rarediseases.info.nih.gov/diseases/10215/citrullinemia-type-ii

Jul 10th, 2011 - Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behavior...

Citrullinemia type II
https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii

Jul 10th, 2011 - Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behavior...

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chine...
https://doi.org/10.3892/ijmm.2011.653
International Journal of Molecular Medicine; Song YZ, Deng M et. al.

Mar 22nd, 2011 - Citrin is a liver-type aspartate/glutamate carrier (AGC) encoded by the gene SLC25A13. Two phenotypes for human citrin deficiency have been described, namely the adult-onset citrullinemia type II (CTLN2) and the neonatal intrahepatic cholestasis c...

see more →

Clinicaltrials.gov  4 results

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian pati...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3777997
PloS One; Song YZ, Zhang ZH et. al.

Sep 26th, 2013 - The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes s...

Citrullinemia type II
https://rarediseases.info.nih.gov/diseases/10215/citrullinemia-type-ii

Jul 10th, 2011 - Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behavior...

Citrullinemia type II
https://rarediseases.info.nih.gov/diseases/10215/adult-onset-citrullinemia-type-ii

Jul 10th, 2011 - Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behavior...

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chine...
https://doi.org/10.3892/ijmm.2011.653
International Journal of Molecular Medicine; Song YZ, Deng M et. al.

Mar 22nd, 2011 - Citrin is a liver-type aspartate/glutamate carrier (AGC) encoded by the gene SLC25A13. Two phenotypes for human citrin deficiency have been described, namely the adult-onset citrullinemia type II (CTLN2) and the neonatal intrahepatic cholestasis c...

see more →