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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.
2007
2007
Complex changes in ecto-nucleoside 5′-triphosphate diphosphohydrolase expression in hypoxanthine phosphoribosyl transferase deficiency
Review
2005
Review
2005
Partial deficiency of galactose-1-phosphate uridyltransferase
In screening programmes testing newborns for galactose-1-phosphate uridyltransferase and/or galactose, partial enzyme deficiency… 
2004
2004
Neuropathology of ornithine carbamyl transferase deficiency
SummaryNeuropathologic findings in two cases of ornithine carbamyl transferase (OCT) deficiency are presented. In one, a boy 3… 
1995
1995
Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency.
Central pontine myelinolysis (CPM) is a demyelinating condition of the central pons with or without associated foci of… 
1990
1990
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
SummaryThe enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol… 
Highly Cited
1989
Highly Cited
1989
Enhanced acetaminophen toxicity in rats with bilirubin glucuronyl transferase deficiency
Glucuronidation is the major pathway for elimination of acetaminophen, diverting it from the toxifying pathway catalyzed by… 
1987
1987
Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets
SummaryIn a new case of carnitine palmityl transferase (CPT) deficiency the defect was documented in muscle and muscle cultures… 
1982
1982
Hereditary plasma lecithin-cholesterol acyl transferase deficiency: a heterozygous variant with erythrocyte membrane abnormalities.
LCAT esterifies cholesterol to cholesterol ester. This study describes a family with plasma LCAT deficiency with a heterozygous… 
1975
1975
Lens changes in a galactosemic fetus.
1967
1967
Field test of galactosemia screening methods in newborn infants.
GALACTOSEMIA is an inborn error of carbohydrate metabolism characterized by the development of malnutrition, cirrhosis of the… 
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