Results 141 to 150 of about 115,827,059 (170)
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Molecular Genetics and Metabolism, 2013
Type 1 citrullinemia (CTLN1) often presents as a hyperammonemic encephalopathy in the neonatal period, but it can also develop in the late-infantile period and in adults. In addition, some patients can be identified in the presymptomatic period by neonatal or family member screening.
Beom Hee, Lee +10 more
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Type 1 citrullinemia (CTLN1) often presents as a hyperammonemic encephalopathy in the neonatal period, but it can also develop in the late-infantile period and in adults. In addition, some patients can be identified in the presymptomatic period by neonatal or family member screening.
Beom Hee, Lee +10 more
openaire +2 more sources
Prenatal diagnosis of citrullinemia type 1: A Chinese family with a novel mutation of the ASS1 gene
Brain and Development, 2014Argininosuccinate synthetase deficiency (citrullinemia type 1) is a rare autosomal recessive disorder of the urea cycle characterized by elevated concentrations of citrulline, ammonia, and orotic acid, manifesting with acute hyperammonemic crises, usually early in life, with concurrent neurologic deterioration.
Tong-Fei, Wu +5 more
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Journal of Clinical Pharmacy and Therapeutics, 2017
Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and ...
Kose, E +5 more
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Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia, and it has been suggested in other urea cycle disorders such as ornithine transcarbamylase deficiency and ...
Kose, E +5 more
openaire +6 more sources
F17. EEG findings and seizure patterns in three infants with type 1 citrullinemia
Clinical Neurophysiology, 2018Introduction Citrullinemia is a urea cycle disorder which leads to toxic accumulation of ammonia and other metabolites. While it is widely accepted that citrullinemia is associated with seizures, there is no literature describing the typical EEG findings. Furthermore, there are no data available on long-term seizure outcomes.
Jillian Rosengard +2 more
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Live donor liver transplantation for type 1 Citrullinemia
2019[No abstract available]
Karaca, C. +6 more
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Management of citrullinemia type 1 without the use of medical formula
Molecular Genetics and Metabolism, 2021Amarilis Sanchez-Valle +3 more
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Adult-Onset Type 1 Citrullinemia Presenting as Postpartum Acute Liver Failure
The American Journal of Medicine, 2022James Wykowski +2 more
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Sudden Acute Liver Failure in Citrullinemia Type 1: An Argument for Earlier Liver Transplantation?
The Journal of PediatricsAcute liver failure has been described at initial presentation of citrullinemia type 1, but recurrent hepatic decompensations during medical treatment have not been reported. We describe 5 children developing episodes of acute liver failure, including one who required emergency liver transplantation.
Jessica A, Eldredge +7 more
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A cohort of citrullinemia type 1 in Iran: Five novel pathogenic variants in the ASS1 gene
Molecular Genetics and Metabolism, 2021Babak Behnam, Shirin Moarefian
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Therapeutic Apheresis and Dialysis, 2021
Jose Ramon Fernandez‐Fructuoso +2 more
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Jose Ramon Fernandez‐Fructuoso +2 more
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