glutarylcarnitine
National Institutes of Health
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Glutaric aciduria type 1 (GA1) is an autosomal recessive rare disorder caused by mutations in the GCDH gene resulting in…
Summary: Malonylcarnitine and glutarylcarnitine are important diagnostic metabolites in the screening of dried blood spots by…
Summary: As well as characteristic increases in C8 carnitine, dried blood spot samples from 11 newborns with medium-chain acyl…
Urinary organic acid and acylcamitine profiles from a 2‐month‐old boy were studied by gas chromatography‐mass spectrometry and…
A large quantity of propionylcarnitine in the urine of patients with propionic acidemia and methylmalonic aciduria was…
Direct analysis of unpurified urine from patients with beta-ketothiolase deficiency and glutaryl-coenzyme A dehydrogenase…
A technique for the identification of glutarylcarnitine in urine from a patient with glutaric aciduria type 1 is described. The…