Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany

Abstract Background Metachromatic leukodystrophy (MLD) is a life-limiting neurodegenerative disease due to pathogenic variants in the ARSA gene. Patients experience severe neurological symptoms, developmental regression, and early death. Aim of the study was to analyze disease burden and healthcare...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Christiane Kehrer, Andrea Bevot, Pascal Martin, Christa Raabe, Saskia Gregor, Ingeborg Krägeloh-Mann, Samuel Groeschel
Format:	Article
Language:	English
Published:	BMC 2025-05-01
Subjects:	Metachromatic leukodystrophy Neurodegenerative disease Disease burden Healthcare utilization Diagnostic pathway Sociomedical aspects
Online Access:	https://doi.org/10.1186/s13023-025-03637-z