Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-007-0527-9
Reference18 articles.
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2. Christensen E, Vikre-Jorgensen J (1995) Six years’ experience with carnitine supplementation in a patient with an inherited defective carnitine transport system. J Inherit Metab Dis 18: 233–236.
3. Christensen E, et al (2000) Sudden infant death following pivampicillin treatment in a patient with carnitine deficiency [Abstract]. J Inherit Metab Dis 23(Supplement 1): 117.
4. Evans AM, Fornasini G (2003) Pharmacokinetics of l-carnitine. Clin Pharmacokinet 42: 941–967.
5. Lamhonwah AM, Olpin SE, Pollitt RJ, et al (2002) Novel OCTN2 mutations: no genotype–phenotype correlations: early carnitine therapy prevents cardiomyopathy. Am J Med Genet 111: 271–284.
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