Data gathering for the first natural history studies using U-IMD data has started

On the MetabERN Board Meeting 2019 it was agreed that U-IMD should demonstrate its capabilities by facilitating natural history studies,  therefore the focus for data acquisition currently is directed at the following target diseases:

  • Smith Lemli Opitz syndrome
  • Tyrosinemia type 1
  • MSUD
  • Mukolipidosis type II/III

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