The DOI matches its Crossref record.
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter
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Citations
Cited by
Heintzman, N. D., Stuart, R. K., Hon, G., Fu, Y., Ching, C. W., Hawkins, R. D., Barrera, L. O., Van Calcar, S., Qu, C., Ching, K. A., et al. (2007) · Nature Genetics · doi:10.1038/ng1966 · Cited by 3,398
Flanagan, J. L., Simmons, P. A., Vehige, J., Willcox, M. D., & Garrett, Q. (2010) · Nutrition & Metabolism · doi:10.1186/1743-7075-7-30 · Cited by 611
“Several mutations have been described [21,22,25,26, 29 ,31-33].”
BackgroundDisorders of carnitine transport and the carnitine cycle
Longo, N., Amat di San Filippo, C., & Pasquali, M. (2006) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30087 · Cited by 543
Stephens, F. B., Constantin‐Teodosiu, D., & Greenhaff, P. L. (2007) · The Journal of Physiology · doi:10.1113/jphysiol.2006.125799 · Cited by 396
EVALUATION OF DRUG-DRUG INTERACTION IN THE HEPATOBILIARY AND RENAL TRANSPORT OF DRUGS
Shitara, Y., Sato, H., & Sugiyama, Y. (2005) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.44.101802.121444 · Cited by 336
Yabuuchi, H., Tamai, I., Nezu, J.-I., Sakamoto, K., Oku, A., Shimane, M., Sai, Y., & Tsuji, A. (1999) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1016/s0022-3565(24)38199-6 · Cited by 316
Self-citationGene Knockout and Metabolome Analysis of Carnitine/Organic Cation Transporter OCTN1
Kato, Y., Kubo, Y., Iwata, D., Kato, S., Sudo, T., Sugiura, T., Kagaya, T., Wakayama, T., Hirayama, A., Sugimoto, M., et al. (2010) · Pharmaceutical Research · doi:10.1007/s11095-010-0076-z · Cited by 206
Self-citationβ-Lactam Antibiotics as Substrates for OCTN2, an Organic Cation/Carnitine Transporter
Ganapathy, M. E., Huang, W., Rajan, D. P., Carter, A. L., Sugawara, M., Iseki, K., Leibach, F. H., & Ganapathy, V. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.3.1699 · Cited by 175
Apical/Basolateral Surface Expression of Drug Transporters and its Role in Vectorial Drug Transport
Ito, K., Suzuki, H., Horie, T., & Sugiyama, Y. (2005) · Pharmaceutical Research · doi:10.1007/s11095-005-6810-2 · Cited by 174
Carnitine, mitochondrial function and therapy
Zammit, V. A., Ramsay, R. R., Bonomini, M., & Arduini, A. (2009) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2009.04.024 · Cited by 149
Carnitine transport: Pathophysiology and metabolism of known molecular defects
Tein, I. (2003) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1024481016187 · Cited by 140
Tamai, I. (2013) · Biopharmaceutics & Drug Disposition · doi:10.1002/bdd.1816 · Cited by 141
Self-citationWang, C., Uray, I. P., Mazumdar, A., Mayer, J. A., & Brown, P. H. (2012) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1925-0 · Cited by 59
Okudaira, N., Fujigaki, M., Nakayoshi, T., Komiya, I., & Sugiyama, Y. (2001) · Pharmaceutical Research · doi:10.1023/a:1011042008169 · Cited by 8
Metadata
- Authors
- Nezu, J.-I., 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.-I., Shimane, M., & Tsuji, A.
- Venue
- Nature Genetics
- Published
- 1999-01
- Volume
- 21
- Issue
- 1
- Pages
- 91-94
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- DOI
- 10.1038/5030
- OpenAlex
- W2103213593
- Cited by
- 554
- References
- 0
- FWCI
- 21.97
- Type
- journal article
- Language
- en
- Open access
- closed
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.