Case Report: X-Linked Creatine Transporter Deficiency in Two Saudi Brothers with Autism
Author:
Funder
Umm Al-Qura University
Publisher
Springer Science and Business Media LLC
Subject
Developmental and Educational Psychology
Link
https://link.springer.com/content/pdf/10.1007/s10803-022-05860-0.pdf
Reference19 articles.
1. Anselm, I. A., Coulter, D. L., & Darras, B. T. (2008). Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology, 70(18), 1642–1644. https://doi.org/10.1212/01.WNL.0000310987.04106.45
2. Bruun, T. U. J., Sidky, S., Bandeira, A. O., Debray, F. G., Ficicioglu, C., Goldstein, J., Joost, K., Koeberl, D. D., Luísa, D., Nassogne, M. C., O’sullivan, S., Õunap, K., Schulze, A., Van Maldergem, L., Salomons, G. S., & Mercimek-Andrews, S. (2018). Treatment outcome of creatine transporter deficiency: International retrospective cohort study. Metabolic Brain Disorders, 33(3), 875–884. https://doi.org/10.1007/s11011-018-0197-3
3. Cecil, K. M., Salomons, G. S., Ball, W. S., Wong, B., Chuck, G., Verhoeven, N. M., Jakobs, C., & Degrauw, T. J. (2001). Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect? Annals of Neurology, 49(3), 401–404. https://doi.org/10.1002/ANA.79
4. Chilosi, A., Leuzzi, V., Battini, R., Tosetti, M., Ferretti, G., Comparini, A., Casarano, M., Moretti, E., Alessandrì, M. G., Bianchi, M. C., & Cioni, G. (2008). Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase, 14(2), 151–161. https://doi.org/10.1080/13554790802060821
5. Dunbar, M., Jaggumantri, S., Sargent, M., Stockler-Ipsiroglu, S., & van Karnebeek, C. D. M. (2014). Treatment of X-linked creatine transporter (SLC6A8) deficiency: Systematic review of the literature and three new cases. Molecular Genetics and Metabolism, 112(4), 259–274. https://doi.org/10.1016/J.YMGME.2014.05.011
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