| 1 | CDSP, SLC22A5
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| Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
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| Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ.
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| Hum Mutat 31(8):E1632-51.PMID: 20574985 2010
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| 2 | CDSP, SLC22A5
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| Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.
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| Komlósi K, Magyari L, Talián GC, Nemes E, Káposzta R, Mogyorósy G, Méhes K, Melegh B.
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| J Inherit Metab Dis Inherit Metab Dis. 2009 Feb 24. [Epub ahead of print]PMID: 19238580 2009
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| 3 | CPT1A, CDSP, SLC22A5, SLC25A20, CACT, CPT2
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| Disorders of carnitine transport and the carnitine cycle.
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| Longo N, Amat di San Filippo C, Pasquali M.
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| Am J Med Genet C Semin Med Genet 142(2):77-85. Review. 2006
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| 4 | CDSP, SLC22A5
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| Phenotypic manifestations of the OCTN2 V295X mutation: sudden infant death and carnitine-responsive cardiomyopathy in Roma families.
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| Melegh B, Bene J, Mogyorosy G, Havasi V, Komlosi K, Pajor L, Olah E, Kispal G, Sumegi B, Mehes K.
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| Am J Med Genet A 131A(2):121-6. 2004
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| 5 | CDSP, SLC22A5
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| Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
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| Makhseed N, Vallance HD, Potter M, Waters PJ, Wong LT, Lillquist Y, Pasquali M, Amat di San Filippo C, Longo N.
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| J Inherit Metab Dis 27(6):778-80. 2004
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| 6 | CDSP, SLC22A5
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| Functional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiency.
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| Amat di San Filippo C, Wang Y, Longo N.
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| J Biol Chem 278(48):47776-84. Epub 2003 Sep 23. 2003
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| 7 | CDSP, SLC22A5
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| A missense mutation in the OCTN2 gene associated with residual carnitine transport activity.
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| Wang Y, Kelly MA, Cowan TM, Longo N.
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| Hum Mutat 15(3):238-45. 2000
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| 8 | CDSP, SLC22A5
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| Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
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| Wang Y, Taroni F, Garavaglia B, Longo N.
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| Hum Mutat 16(5):401-7. 2000
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| 9 | CDSP, SLC22A5
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| Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.
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| Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A.
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| Nat Genet 21 : 91-94. 1999
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| 10 | CDSP, SLC22A5
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| Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
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| Tang NLS, et al.
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| Hum Mol Genet 8(4):655-60. 1999
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| 11 | CDSP, SLC22A5
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| Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency.
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| Wang Y, et al.
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| Proc Natl Acad Sci U S A 96(5):2356-60. 1999
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| 12 | CDSP, SLC22A5
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| Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.
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| Vaz FM, et al.
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| Hum Genet 105(1-2):157-61. 1999
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| 13 | CDSP, SLC22A5
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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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| Koizumi A, et al.
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| Hum Mol Genet 8(12):2247-2254 1999
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| 14 | CDSP, SLC22A5
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| Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
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| Seth P, Wu X, Huang W, Leibach FH, Ganapathy V.
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| J Biol Chem 274(47):33388-92 1999
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| 15 | CDSP
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| Evidence for linkage of human primary systemic carnitine deficiency with D5S436 : a novel gene locus on chromosome 5q.
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| Shoji Y, et al.
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| Am J Hum Genet 63 : 101-108. 1998
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| 16 | CDSP, SLC22A5
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| Carnitine uptake defect : frameshift mutations in the human plasmalemmal carnitine transporter gene.
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| Lamhonwah AM, et al.
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| Biochem Biophys Res Commun 252 : 396-401. 1998
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