deficiency of lyase

Known as: lyase deficiency 
 

Topic mentions per year

Topic mentions per year

1979-2017
012319792017

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2013
2013
Eukaryotic cells can be protected against mutations that generate stop codons by nonsense-mediated mRNA decay (NMD) and/or… (More)
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2007
2007
We have initiated clinical selective screening for inborn errors of metabolism in China by analysing amino acids and… (More)
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2006
2006
3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a… (More)
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2006
2006
Cerebral creatine and guanidinoacetate and blood and urine metabolites were studied in four patients with argininosuccinate… (More)
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2003
2003
We report on the striking variable expression of adenylosuccinate lyase (ADSL) deficiency in three patients belonging to a family… (More)
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1998
1998
Three patients with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency were examined with MR imaging and proton MR… (More)
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1998
1998
A 2.5-year-old boy presented with acute metabolic decompensation in whom 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase… (More)
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1993
1993
Children with 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase) deficiency (McKusick 246450) have an impaired capacity to… (More)
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1986
1986
Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A (CoA) lyase affects the metabolism of leucine as well as ketogenesis. This… (More)
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1980
1980
A 2-year-old boy had acute fever, malaise, and somnolence with hepatomegaly, increased blood ammonia content (338 microM), high… (More)
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