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Year | Number of Results |
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2005 | 1 |
2013 | 2 |
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Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
Am J Hum Genet. 2005 Jul;77(1):16-26. doi: 10.1086/431216. Epub 2005 May 3.
Am J Hum Genet. 2005.
PMID: 15871139
Free PMC article.
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.
Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W.
Alfadhel M, et al.
Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83.
Orphanet J Rare Dis. 2013.
PMID: 23742248
Free PMC article.
Review.
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A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
Aljabri MF, Kamal NM, Arif M, AlQaedi AM, Santali EYM.
Aljabri MF, et al.
Medicine (Baltimore). 2016 Oct;95(40):e4819. doi: 10.1097/MD.0000000000004819.
Medicine (Baltimore). 2016.
PMID: 27749535
Free PMC article.
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Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome.
Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, Mayatepek E, Kohlhase J, Karenfort M.
Distelmaier F, et al.
JIMD Rep. 2014;13:53-7. doi: 10.1007/8904_2013_271. Epub 2013 Oct 29.
JIMD Rep. 2014.
PMID: 24166474
Free PMC article.
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