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

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 diagnosis. This...

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Detalles Bibliográficos
Autores principales: Schoenmakers, Daphne H., Beerepoot, Shanice, Krägeloh‐Mann, Ingeborg, Elgün, Saskia, Bender, Benjamin, van der Knaap, Marjo S., Wolf, Nicole I., Groeschel, Samuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9735365/
https://www.ncbi.nlm.nih.gov/pubmed/36334091
http://dx.doi.org/10.1002/acn3.51692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9735365/
https://www.ncbi.nlm.nih.gov/pubmed/36334091
http://dx.doi.org/10.1002/acn3.51692

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