Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference16 articles.
1. New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency;Stanley;Adv Pediatr,1987
2. Carnitine transport in rat small intestine;Shaw;Am J Physiol,1983
3. Sodium gradient-stimulated transport of L-carnitine into renal brush border membrane vesicles: kinetics, specificity, and regulation by dietary carnitine;Rebouche;Arch Biochem Biophys,1984
4. Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency;Rebouche;In Vitro,1982
5. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake;Stanley;Ann Neurol,1991
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