Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Author:

Flønes Irene,Sztromwasser Paweł,Haugarvoll Kristoffer,Dölle Christian,Lykouri Maria,Schwarzlmüller Thomas,Jonassen Inge,Miletic Hrvoje,Johansson Stefan,Knappskog Per M.,Bindoff Laurence A.,Tzoulis Charalampos

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference23 articles.

1. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2;VS Subramanian;American journal of physiology Cell physiology,2006

2. Biotin-responsive basal ganglia disease: a novel entity;PT Ozand;Brain: a journal of neurology,1998

3. Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone;B Tabarki;European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society,2015

4. Tabarki B, Al-Hashem A, Alfadhel M. Biotin-Thiamine-Responsive Basal Ganglia Disease. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA)1993.

5. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3;WQ Zeng;American journal of human genetics,2005

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