Citrullinemia

Known as: Citrullinemias, Classic, Deficiency Disease, Argininosuccinic Acid Synthase, Deficiency, ASS 
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In… (More)
National Institutes of Health

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Topic mentions per year

1962-2017
0102019622017

Papers overview

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2007
2007
The Quebec Mass Urinary Screening Programme, initiated in 1971, has resulted in the screening of more than 2 500 000 newborns in… (More)
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Highly Cited
2004
Highly Cited
2004
BACKGROUND Argininosuccinate synthetase (ASS) was the first of two enzymes to convert citrulline to arginine. This pathway… (More)
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2003
2003
Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the… (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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2001
2001
Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a… (More)
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1997
1997
Adult-onset type II citrullinemia is characterized by which deficiency of argininosuccinate synthetase (ASS) protein is found… (More)
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1993
1993
Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia in human beings. Type II citrullinemia is found in most… (More)
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1990
1990
Citrullinemia is an autosomal recessive disease caused by deficiency of argininosuccinate synthetase. In order to characterize… (More)
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1981
1981
Enzymological and immunochemical analyses of the liver were preformed in seven Japanese patients with citrullinemia. Among the… (More)
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1963
1963
It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the… (More)
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