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Atypical Presentations in an RTD Patient and Report of Novel SLC52A3 and SLC52A2 Mutations

ACTA NEUROLOGICA BELGICA(2024)

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关键词
Riboflavin transporter deficiency disease (RTD),Brown-Vialetto-Van Laere syndrome (BVVL),Atypical presentations,SLC52A3,SLC52A2
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