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Results: 7

Related Articles by Review for PubMed (Select 15871139)

1.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF.

Am J Hum Genet. 2005 Jul;77(1):16-26. Epub 2005 May 3.

2.

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.

Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Review.

3.

Biotin-Thiamine-Responsive Basal Ganglia Disease.

Tabarki B, Al-Hashem A, Alfadhel M.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2013 Nov 21.

4.

Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors.

Zhao R, Goldman ID.

Mol Aspects Med. 2013 Apr-Jun;34(2-3):373-85. doi: 10.1016/j.mam.2012.07.006. Review.

5.

Biotin-responsive basal ganglia disease: case report and review of the literature.

El-Hajj TI, Karam PE, Mikati MA.

Neuropediatrics. 2008 Oct;39(5):268-71. doi: 10.1055/s-0028-1128152. Epub 2009 Mar 17. Review.

PMID:
19294600
6.

[Molecular genetic aspects of basal ganglia diseases].

Kanazawa I.

No To Shinkei. 1993 Feb;45(2):129-32. Review. Japanese. No abstract available.

PMID:
8476662
7.

Aicardi-Goutières syndrome.

Goutières F.

Brain Dev. 2005 Apr;27(3):201-6. Review.

PMID:
15737701
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