Mutations of OCTN2 , an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

By Ganapathy V.  

Human Molecular Genetics, Vol. 8, Iss. 4, 1999-04 ,pp. : 655-660

Oxford University Press

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Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency

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Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2247-2254

Oxford University Press

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Identification of Two Mutations in a Compound Heterozygous Child with Dihydrolipoamide Dehydrogenase Deficiency

By Hong Young Soo   Kerr Douglas S.   Craigen William J.   Tan Jie   Pan Yanzhen   Lusk Marilyn   Patel Mulchand S.  

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Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3

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Human Molecular Genetics, Vol. 14, Iss. 4, 2005-02 ,pp. : 483-492

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Carnitine and carnitine acetyltransferases in the yeast Saccharomyces cerevisiae : a role for carnitine in stress protection

By Franken Jaco  

Current Genetics, Vol. 53, Iss. 6, 2008-06 ,pp. : 347-360

Springer Publishing Company

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