Carnitine: Metabolism and clinical chemistry. Clin Chem Acta. 1989;183(1):3–11, , , .
The role of carnitine in intracellular metabolism. J Clin Chem Clin Biochem. 1990;28(5):297–301.
Carnitine metabolism and function in humans. Annu Rev Nutr. 1986;6:41–66, .
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts. N Engl J Med. 1988;319(20):1331–1336, , , , .
Primary and secondary carnitine deficiency syndromes. J Child Neurology. 1995;10(Suppl 2):S8–S24, .
Novel OCTN 2 mutations: No genotype-phenotype correlations: Early carnitine therapy prevents cardiomyopathy. Am J Med Genet. 2002;111:271–284, , , , , , , , De , , , , , , .
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiencyHum Mol Genet. 1999;8(12):2247–2254, , , , , , , , , , , , .
Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency. Clin Biochem. 1987;20:1–7, , , , .
Carnitine membrane transporter deficiency: A long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab. 2002;77:195–201, , , , , , , , .
Primary systemic carnitine deficiency presenting as recurrent Reye-like syndrome and dilated cardiomyopathy. Chang Gung Med J. 2002;25:832–837.
l-Carnitine. A preliminary review of its pharmacokinetics and its therapeutic use in ischemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism. Drugs. 1987;34:1–24, .
Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation. Hypertension. 2007;50:497–502, , , , , , , , .
Carnitine metabolism and inborn errors. J. Inher Metab Dis. 1984;7(Suppl 1):38–43, .
Primary carnitine deficiency: Adult onset lipid storage myopathy with a mild clinical course. J Clin Neurosci. 2004;11(8):919–924, , , , , , .
Clinical Aspects of Human Carnitine Deficiency, Pergamon Press, New York, 120–134, 1986. Carnitine supplementation in human carnitine deficiency. , ed.
Urinary excretion of L-carnitine and acylcarnitines in patients with disorders of organic acid metabolism: Evidence for secondary insufficiency of l-carnitine. Pediatr Res. 1984;18(12):1325–1328, , , .
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome. Science. 1973;179(76):899–902, .
Disorders of lipid metabolism in muscle. Muscle Nerve. 1980;3(5):369–388, , .
L-carnitine therapy in propionicacidemia. Lancet. 1982;(8286):1411–1412, .
Carnitine metabolism and deficiency syndromes. Mayo Clin Proc. 1983;58(8):533–540, .
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res. 1983;17(11):877–884, , , , , , , , , .
L-Carnitine insufficiency in disorders of organic acid metabolism: Response to L-carnitine by patients with methylmalonic aciduria an 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis. 1984;7(Suppl 2):109–110, , , , , , .
Carnitine deficiency, organic acidemias and Reye's syndrome. Neurology. 1985;35(7):1041–1045, Jr, .
Plasma carnitine deficiency. Clinical observations in 51 pediatric patients. Am J Dis Child. 1987;141(6):660–665, , , , , .
Carnitine metabolism and inborn errors. J Inherit Metab Dis. 1984;7(Suppl 1):38–43, .
Propionylcarnitine excretion in propionic and methylmalonic acidurias: A cause of carnitine deficiency. Clin Chim Acta. 1984;139(1):13–21, , , .
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. J Clin Invest. 1984;73(6):1785–1788, , , , .
Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency. N Engl J Med. 1984;311(19):1232–1236, , , , , , , .
Glutaric aciduria type II: Treatment with riboflavin, carnitine and insulin. Eur J Pediatr. 1984;143(2):92–95, , , , , .
L-carnitine therapy in isovaleric acidemia. J Clin Invest. 1984;74(6):2290–2295, , , , .
Treatment of carnitine deficiency. J Inherit Metab Dis. 2003;26(2–3):171–180.
Carnitine supplementation in inborn errors of metabolism. Cochrane Database Syst Rev. 2009;(2):CD006659, , , .