Adult-onset citrullinemia type 2

Known as: CTLN2, Citrin deficiency, Citrullinemia, Type II, Adult-Onset 
 
National Institutes of Health

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2007
2007
The proband was born at 36 weeks, appropriate for gestational age, to nonconsanguineous white parents. There was no evidence of… (More)
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2006
2006
Adult onset type II citrullinemia (CTLN2) is an autosomal recessive disease accompanied with hyperammonemia and a sudden onset of… (More)
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2005
2005
OBJECTIVE We report a risk of worsening of encephalopathy by glycerol infusion when this osmotic agent is used for the treatment… (More)
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Review
2004
Review
2004
Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult… (More)
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2003
2003
A 40-year-old woman was admitted with altered consciousness and hyperammonemia after she had delivered her first baby. DNA… (More)
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Review
2002
Review
2002
AbstractBy using homozygosity mapping and positional cloning, we have shown that adult-onset type II citrullinemia (CTLN2) is… (More)
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2001
2001
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific argininosuccinate synthetase deficiency caused by… (More)
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2000
2000
Adult-onset type II citrullinemia (CTLN2) is characterized by a liver-specific deficiency of argininosuccinate synthetase (ASS… (More)
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Highly Cited
1999
Highly Cited
1999
Citrullinaemia (CTLN) is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase (ASS). Adult-onset… (More)
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1999
1999
Citrullinemia is an autosomal recessive disease characterized by an argininosuccinate synthetase (ASS) deficiency. Adult-onset… (More)
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