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X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
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Citations
Cites
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Synthesis and transport of creatine in the CNS: Importance for cerebral functions
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Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101658 · Cited by 164
Self-citationExploring the therapeutic role of creatine supplementation
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Creatine deficiency syndromes and the importance of creatine synthesis in the brain
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Creatine for the Treatment of Depression
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“It is synthesized in brain to a limited degree, but brain levels are primarily maintained by active transport from the serum via the sodium- and chloride-dependent creatine transporter SLC6A8 [9,10].”
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Does brain creatine content rely on exogenous creatine in healthy youth? A proof-of-principle study
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Absolute Oral Bioavailability of Creatine Monohydrate in Rats: Debunking a Myth
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Metadata
- Authors
- Salomons, G. S., van Dooren, S. J. M., Verhoeven, N. M., Cecil, K. M., Ball, W. S., Degrauw, T. J., & Jakobs, C.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-06
- Volume
- 68
- Issue
- 6
- Pages
- 1497-1500
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2026947381
- Cited by
- 396
- References
- 1
- FWCI
- 9.76
- Type
- journal article
- Language
- en
- Open access
- bronze
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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.