Inborn Errors of Thiamine Metabolism

  • J.-M. Saudubray


The triad of thiamine-responsive megaloblastic anemia, diabetes mellitus, and sensorineural deafness so far has been described in approximately 20 patients from 12 unrelated families [1–7; N. Buist, R. Rappaport, personal communications]. Its basic defect is unclear.


Inborn Error Megaloblastic Anemia Sensorineural Deafness Thiamine Metabolism Anemia Syndrome 
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© Springer-Verlag Berlin Heidelberg 1990

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  • J.-M. Saudubray

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