Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711777
Reference9 articles.
1. Barth PG, Scholte HR, Berden JA et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes.J Neurol Sci 62: 327?355.
2. Di Donato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G (1988) Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.Neurology 38: 1107?1110.
3. Erikson BO, Gustafson B, Lindstedt S, Nordin I (1989) Transport of carnitine into cells in hereditary carnitine deficiency.J Inher Metab Dis 12: 108?111.
4. Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S (1991) Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation.Neurology 41: 1691?1693.
5. Ribes A, Riudor E, Briones P, Christensen E, Campistol J, Millington DS (1992) Significance of bound glutarate in the diagnosis of glutaric aciduria type I.J Inher Metab Dis 15: 367?370.
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1. Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children;American Heart Journal;2000-02
2. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation;Human Mutation;2000
3. Síndrome de Reye-like como manifestación inicial de enfermedad mitocondrial;Anales de Pediatría;2000
4. Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency;European Journal of Pediatrics;1998-03-24
5. Plasma free fatty acids in mitochondrial fatty acid oxidation defects;Clinica Chimica Acta;1997-11
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