Dr Gabriele Ramoser, Dr Federica Caferri, Dr Sabine Scholl-Bürgi and Dr Daniela Karall joined the podcast to discuss their recent work looking at the Austrian "Registry for Inherited Metabolic Disorders". We spoke about the importance of patient registries, variable prevalence rates and the difficulties around where to care for adults with IMD.
100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021
Gabriele Ramoser, et al
https://doi.org/10.1002/jimd.12442
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