Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy

Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosi...

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Bibliographic Details
Main Authors: Daphne H. Schoenmakers, Shanice Beerepoot, Ingeborg Krägeloh‐Mann, Saskia Elgün, Benjamin Bender, Marjo S. van derKnaap, Nicole I. Wolf, Samuel Groeschel
Format: Article
Language:English
Published: Wiley 2022-12-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51692