Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.
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DOI: 10.1097/cnd.0000000000000390
Abstract: ABSTRACT We present the electrodiagnostic findings in a case of a 3-year-old girl presenting with sensory ataxia, gait disturbance, and visual-auditory disturbance with a genetically confirmed diagnosis of riboflavin transporter deficiency type 2 (RTD2). She… read more here.
Keywords: deficiency type; riboflavin transporter; electrodiagnostic findings; transporter deficiency ... See more keywords