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deficiency of lyase

Known as: lyase deficiency 
National Institutes of Health

Papers overview

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2016
2016
BackgroundPatients with urea cycle disorders (UCDs) have an increased risk of neurological disease manifestation.AimsDetermining… Expand
Highly Cited
2013
Highly Cited
2013
A key question for urea cycle disorders is their incidence. In the United States two UCDs, argininosuccinic synthetase and lyase… Expand
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2012
2012
Background: Knock-out of S1P lyase, the only enzyme cleaving the sphingoid backbone, causes a severe phenotype. Results: S1P… Expand
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Highly Cited
2010
Highly Cited
2010
The cleavage of sphingoid base phosphates by sphingosine-1-phosphate (S1P) lyase to produce phosphoethanolamine and a fatty… Expand
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2009
2009
Summary3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error affecting leucine catabolism and… Expand
2007
2007
We report the case of an 8-month-old infant with 3-hydroxy-3-methylglutaryl coenzyme A deficiency (OMIM 246450), an inborn error… Expand
2006
2006
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a… Expand
2004
2004
development (Shilkin et al 1981). Treatment regimes have varied, and optimal management has not yet been agreed. While some… Expand
1986
1986
A 6½‐month‐old male offspring of consanguineous Egyptian parents was first seen because of fever, somnolence, vomiting, right… Expand
1979
1979
Two PATIENTS with a deficiency of 3-hydroxy-3methylglutaryl coenzyme A (HMG-CoA) lyase have been described? '-' This enzyme… Expand