Hopp til hovedinnhold

Biotin-thiamin responsiv basalganglie sykdom

Publisert:
Sist revidert av:


  1. 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. 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. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Review. PMID: 23742248 PubMed  
  2. Kassem H, Wafaie A, Alsuhibani S, Farid T. Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. AJNR Am J Neuroradiol. 2014 Oct;35(10):1990-5. PMID: 24812013 PubMed  
  3. Eichler FS, Swoboda KJ, Hunt AL, Cestari DM, Rapalino O. Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. N Engl J Med. 2017 Dec 14;377(24):2376-2385. PMID: 29236641 PubMed  
  4. Tabarki B, Al-Hashem A, Alfadhel M. Biotin-Thiamine-Responsive Basal Ganglia Disease. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® Internet. Seattle (WA): University of Washington, Seattle; 1993-2018.2013 Nov 21. PMID: 24260777 PubMed  
  5. Algahtani H, Ghamdi S, Shirah B, Alharbi B, Algahtani R, Bazaid A. Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. Neurol Res. 2017 Feb;39(2):117-125. PMID: 27905264 PubMed  
  • Unn Ljøstad, spesialist i nevrologi, professor PhD
  • Åse Mygland, spesialist i nevrologi, professor dr med