Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/jhg201535.pdf
Reference18 articles.
1. Ozand, P. T., Gascon, G. G., Essa, M. A., Joshi, S., Jishi, E. A. & Bakheet, S. et al. Biotin-responsive basal ganglia disease: a novel entity. Brain 121, 1267–1279 (1998).
2. Perez-Duenas, B., Seeeano, M., Rebollo, M., Muchart, J., Gargallo, E. & Dupuits, C. et al. Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. Pediatrics 131, e1670–e1675 (2013).
3. Alfadhel, M., Almuntashri, M., Jadah, R. H., Bashiri, F. A., Rifai, M. T. A. & Shalaan, H. A. et al. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J. Rare Dis. 8, 83 (2013).
4. Tabarki, B., Al-Shafi, S., Al-Shahwan, S., Azmat, Z., Al-Hashem, A. & Al-Adwani, N. et al. Biotin-responsive basal ganglia disease revisited. Neurology 80, 261–267 (2013).
5. Zeng, W. Q., Al-Yamani, E., Acierno, J. S., Slaugenhaupt, S., Gillis, T. & MacDonald, M. E. et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am. J. Hum. Genet. 77, 16–26 (2005).
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