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deficiency of transferase

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

Papers overview

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Highly Cited
2004
Highly Cited
2004
A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable… Expand
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2004
2004
SummaryNeuropathologic findings in two cases of ornithine carbamyl transferase (OCT) deficiency are presented. In one, a boy 3… Expand
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2004
2004
SummaryThe enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol… Expand
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1994
1994
Carnitine palmitoyl transferase deficiency is one of the mitochondrial myopathies characterized by weakness, exercise intolerance… Expand
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1989
1989
Severe rhabdomyolysis following an influenza B infection developed in a previously well 13-year-old girl. There was no history of… Expand
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1989
1989
Glucuronidation is the major pathway for elimination of acetaminophen, diverting it from the toxifying pathway catalyzed by… Expand
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Highly Cited
1983
Highly Cited
1983
The clinical features and the computed tomographic appearances of the brain in seven children with ornithine carbamoyl… Expand
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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
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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
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1974
1974
In an optimalised radiochemical procedure for simultaneous measurement of hypoxanthine‐guanine phosphoribosyl transferase (HG‐PRT… Expand
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