Six years' experience with carnitine supplementation in a patient with an inherited defective carnitine transport system
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711776
Reference7 articles.
1. Eriksson BO, Lindstedt S, Nordin I (1988) Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.Eur J Pediatr 147: 662?663.
2. Holme E, Jodal U, Lindstedt S, Nordin I (1992) Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children.Scand J Clin Lab Invest 52: 361?372.
3. McGarry JD, Foster DW (1976) An improved and simplified radioisotopic assay for the determination of free and esterified carnitine.J Lipid Res 17: 277?281.
4. Rebouche CJ, Engel AG (1982) Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency.In Vitro 18: 495?500.
5. Stanley CA, DeLeeuw S, Coates PM et al (1991) Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.Ann Neurol 30: 709?716.
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