Argininosuccinic Aciduria

Known as: Argininosuccinate Acidemia, Argininosuccinicaciduria, Argininosuccinic Aciduria [Disease/Finding] 
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA… (More)
National Institutes of Health

Papers overview

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2012
2012
Argininosuccinate lyase (ASL) is required for the synthesis and channeling of L-arginine to nitric oxide synthase (NOS) for… (More)
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Review
2012
Review
2012
Argininosuccinic aciduria (ASA) is a urea cycle disorder with a complex phenotype. In spite of a lower risk for recurrent… (More)
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Highly Cited
2006
Highly Cited
2006
BACKGROUND & AIMS Donor cell engraftment with expression of enzyme activity is the goal of liver cell transplantation for inborn… (More)
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Highly Cited
2003
Highly Cited
2003
OBJECTIVES We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the… (More)
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Review
2000
Review
2000
Nitric oxide (NO) is synthesized from arginine by NO synthase (NOS), and the availability of arginine is one of the rate-limiting… (More)
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1996
1996
We present the outcome of a pregnancy in a woman with mild argininosuccinic lyase deficiency to add to the collective experience… (More)
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Highly Cited
1993
Highly Cited
1993
OBJECTIVE Mevalonic aciduria is a consequence of the deficiency of mevalonate kinase, the first enzyme after 3-hydroxy-3… (More)
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1987
1987
The presentation and 2 year treatment of a patient with argininosuccinic aciduria is reported. Erythrocyte argininosuccinate… (More)
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1986
1986
Hepatomegaly is an important clinical finding in patients with argininosuccinic aciduria (a hereditary defect of the urea cycle… (More)
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1979
1979
A 7 1/2-year-old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental… (More)
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