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M. Langeveld

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Review Open access Aug 2026

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

The findings underscore the value of reviewing all strong genetic variants within a multidisciplinary team setting, facilitating a bidirectional exchange of expertise, which enhances diagnostic accuracy, particularly when the underlying cause of the disease is not immediately apparent.

M. Oud, Elise A. Ferreira, C. V. van Karnebeek et al. · 0 citations

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