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deficiency of transferase

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

Papers overview

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1991
1991
Addendum to report of partial hypoxanthine-guanine phosphoribosyl transferase deficiency
1989
1989
[Alterations of mitochondria in metabolic diseases. Carnitine deficiency, carnitine palmitoyltransferase deficiency and beta oxidation].
Recently a number of defects of fatty acid transport and beta-oxidation have been described. Primary carnitine deficiency… 
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… 
1982
1982
Hemoglobin A in galactosemia, a possible role in monitoring dietary compliance
The finding of elevated HbA1 levels in two galactosemic infants of 24.1% and 23.8% (normal 6.3-8.2%) led to an assessment of the… 
1980
1980
[Clinical demonstrations of hereditary disorders of metabolism].
Case reports are presented on 4 outpatients with hereditary disorders of metabolism. 1. In a 46-year-old male of Sicilian origin… 
1978
1978
Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.
This study was designed to determine the activity of galactose-1-phosphate uridyltransferase enzyme in a family (parents and… 
1976
1976
[Investigation of the frequency of heterozygotes for galactose-1-phosphate-uridyl-transferase-deficiency(galactosemia) in the Vienna area. Comparison with the frequency of homozygotes found by…
By routine newborn screening for galactose blood level elevations a great difference in the frequency of Galactosemia by… 
1975
1975
[Trial of detection of female carriers for the ornithine-carbamyltransferase deficiency by the urine assay of crotic acid. Apropos of a family study].
Studies on the detection of female carriers of the gene responsible for ornithine carbamoyl transferase deficiency are reported… 
1973
1973
Gout with adenine phosphoribosyl transferase deficiency.
1969
1969
[Glucuronic acid transferase deficiency in children].