Skip to search formSkip to main contentSkip to account menu
You are currently offline. Some features of the site may not work correctly.

deficiency of transferase

Known as: deficiency transferase, transferase deficiency 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 4
  • figure 5
2004
2004
SummaryNeuropathologic findings in two cases of ornithine carbamyl transferase (OCT) deficiency are presented. In one, a boy 3… Expand
  • figure 3
  • figure 1
  • figure 2
Review
1999
Review
1999
BACKGROUND The diagnosis of inborn errors of purine and pyrimidine metabolism is often difficult. We examined the potential of 1H… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
1994
1994
Carnitine palmitoyl transferase deficiency is one of the mitochondrial myopathies characterized by weakness, exercise intolerance… Expand
1989
1989
Severe rhabdomyolysis following an influenza B infection developed in a previously well 13-year-old girl. There was no history of… Expand
Highly Cited
1989
Highly Cited
1989
Glucuronidation is the major pathway for elimination of acetaminophen, diverting it from the toxifying pathway catalyzed by… Expand
Highly Cited
1983
Highly Cited
1983
The clinical features and the computed tomographic appearances of the brain in seven children with ornithine carbamoyl… Expand
Highly Cited
1981
Highly Cited
1981
A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting… Expand
  • figure 1
  • figure 3
  • figure 2
  • figure 4
Highly Cited
1980
Highly Cited
1980
A shaft seal for a rotatable shaft which is surrounded by a substantially rigid structural element, has a ring-shaped body… Expand
1974
1974
In an optimalised radiochemical procedure for simultaneous measurement of hypoxanthine‐guanine phosphoribosyl transferase (HG‐PRT… Expand