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Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience. [PDF]

open access: yesInt J Neonatal Screen
Gragnaniello V   +9 more
europepmc   +1 more source
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Effect of Carnitine Analogs on Carnitine Acetyltransferase

Journal of Pharmaceutical Sciences, 1980
Carnitine analogs with various substituents on the nitrogen were tested for their effect on carnitine acetyltransferase from rat sperm and pigeon breast. A radiometric assay was used to measure the formation of acetylcarnitine in the presence of other enzymes that competed for acetyl coenzyme A in the sperm preparation.
M R, Boots   +3 more
openaire   +2 more sources

Microdetermination of (−)carnitine and carnitine acetyltransferase activity

Analytical Biochemistry, 1977
Abstract A method for the determination of picomole amounts of total (−)carnitine and free (−)carnitine in the presence of short-chain acyl(−)carnitines is described. The method is based on the conversion of radioactive acetyl-CoA to acetyl(−)carnitine in the presence of carnitine acetyltransferase and oxidized glutathione or N -ethylmaleimide to ...
R, Parvin, S V, Pande
openaire   +2 more sources

Carnitine, carnitine acyltransferases, and rat brain function

Experimental Neurology, 1982
The concentrations of free, short chain, and long chain acylcarnitines and the enzyme activities of carnitine acetyltransferase (CAT) and carnitine palmityltransferase (CPT) were studied in different rat brain regions. The fate of tritium-labeled carnitine was studied in different brain regions in vivo after i.p. injection in 3-month-old Sprague-Dawley
Bresolin N.   +3 more
openaire   +2 more sources

Carnitine “deficiency”

Neurology, 1980
A 29-year-old women had muscle weakness, low concentrations of carnitine in muscle and serum, and abnormally low urinary excretion of carnitine. During a fast, exercise capacity declined, ketone body concentrations rose, metabolic acidosis worsened, and she became hypoglycemic.
J E, Carroll   +6 more
openaire   +2 more sources

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