Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease
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DOI: 10.1212/wnl.0000000000206832
Abstract: Biotin thiamine responsive basal ganglia disease (BTRBGD) is an inherited autosomal recessive disorder that results from the inability of thiamine to cross the blood–brain barrier. It is considered a treatable condition if vitamin supplementation, most… read more here.
Keywords: thiamine responsive; neurology; responsive basal; biotin ... See more keywords