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.
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DOI: 10.1002/jimd.12442
Abstract: Inherited metabolic disorders (IMDs) are a heterogeneous group of rare disorders characterized by disruption of metabolic pathways. To date, data on incidence and prevalence of IMDs are limited. Taking advantage of a functioning network within… read more here.
Keywords: metabolism; prevalence; minimal birth; inherited metabolic ... See more keywords