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    • The first case of riboflavin transporter deficiency in sub-Saharan Africa 

      Chaya, Shaakira; Van der Westhuizen, Francois; Zampoli, Marco; Gray, Diane; Booth, Jane (Elsevier, 2018)
      This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, ...