Journal of Pediatric Genetics

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Alfadhel M, Almuntashri M, Jadah RH. , 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 2013;
8 (83) 83

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