Article
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.
Journal of inherited metabolic disease - 1 Sept 2026
Oud Machteld M, Ferreira Elise A, van Karnebeek Clara D M, Wijngaard Robin, Wolf Nicole I, Engelen Marc, Datema Mareen, Ferdinandusse Sacha, van Kuilenburg André B P, Steinbusch Laura, van der Crabben Saskia N, Langeveld Mirjam
Abstract excerpt
Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function. Although the pathogenic genetic variants are present at birth, clinical manifestations may not emerge until adolescence or adulthood. Symptoms may be more subtle compared to those of childhood onset IMDs and may have overlap with signs and symptoms of acquired disorders. This makes diagnosing...
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