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deficiency of citrate(si)-synthase

Known as: synthetase deficiency 
National Institutes of Health

Papers overview

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2005
2005
Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
2000
2000
Molecular definition of bovine argininosuccinate synthetase deficiency.
1992
1992
[Comments on the contribution, Therapy of hyperammonemia in carbamylphosphate synthetase deficiency with peritoneal dialysis and venovenous hemofiltration, by B. Lettgen et al].
  • M. Brockstedt
  • Monatsschrift Kinderheilkunde : Organ der…
  • 1992
  • Corpus ID: 19669686
1989
1989
[Remarks on a clinical case of partial carbamyl phosphate synthetase deficiency].
A preliminary undiagnosed case of partial carbamyl-phosphate-synthetase deficiency in a 14 year old patient is described. This… 
1986
1986
Partial carbamyl phosphate synthetase deficiency, simulating Reye's syndrome, in a 9-year-old girl.
1985
1985
[Deficiencies of the prostaglandin system: III. A partial thromboxane synthetase defect].
The case is presented of a 67 year-old female patient suffering from an increased bleeding tendency for the past 10 years. The… 
Review
1980
Review
1980
Clinical consequences of enzyme deficiencies in the erythrocyte.
The anucleate mature erythrocyte also lacks ribosomes and mitochondria and thus cannot synthesize enzymes or derive energy from…