Sep 2026
Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy.
D. Schoenmakers, M. Datema, Shanice Beerepoot et al.
· Brain : a journal of neurolo... · 0 citations
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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.
· Journal of Inherited Metabol... · 0 citations