citrin

03/01/2008 - "Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency."
03/01/2008 - "Four weeks later, this patient was switched to a galactose-free formula (as recommended in citrin deficiency with galactosemia) and her pathological status returned to normal. "
03/01/2008 - "Citrin deficiency was later ruled out by molecular biology studies; then we reintroduced a galactose-containing formula which re-evoked rapidly vomiting, galactose aversion and hepatic cytolysis and the diagnosis of classical galactosemia was established. "
04/01/2006 - "Therefore citrin deficiency causes various and complicated metabolic disturbances, such as hypoglycemia, hyperlactic acidemia, hyperammonemia, hypoproteinemia, hyperlipidemia, and galactosemia. "

03/01/2008 - "Citrin deficiency was later ruled out by molecular biology studies; then we reintroduced a galactose-containing formula which re-evoked rapidly vomiting, galactose aversion and hepatic cytolysis and the diagnosis of classical galactosemia was established. "

05/01/2009 - "Results of this study showed, even during the silent period, sustained hypercitrullinemia, hypercholesterolemia, and augmented oxidative stress in children with citrin deficiency."

05/01/2013 - "The study identified severe fatigue and impaired QOL in citrin-deficient patients during the silent period, and that such children perceive worse fatigue and poorer QOL than those estimated by their parents. "
05/01/2013 - "The aims of the present study are to characterize fatigue and quality of life (QOL) in citrin-deficient patients during adaptation and compensation stage, and to define the relationship between fatigue and QOL. "
05/01/2013 - "Citrin-deficient patients with scores of 50 percentile or less of healthy children constituted 67.5% of the sample for the Fatigue Scale and 68.4% for the Generic Core Scales. "
05/01/2013 - "Fatigue and quality of life in citrin deficiency during adaptation and compensation stage."

07/01/2011 - "Mutations of the SLC25A13 gene, which encodes citrin, result in adult-onset type II citrullinemia (CTLN2). "
12/28/2007 - "Adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin, and patients with this condition do not express citrin. "
04/01/2004 - "We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. "
05/01/2003 - "Adult-onset type II citrullinaemia, caused by deficiency of the citrin protein encoded by the SLC25A13 gene, is characterised by a liver-specific argininosuccinate synthetase deficiency. "
07/01/2002 - "This explains why citrin deficiency in humans (type II citrullinemia) only affects the liver and suggests that aralar1 may compensate for the lack of citrin in other tissues."