A systematic review on the birth prevalence of metachromatic leukodystrophy

A systematic review on the birth prevalence of metachromatic leukodystrophy

Abstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clinical subtypes are defined by symptom onset at ≤ 2....

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Bibliographic Details
Main Authors: Shun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, Teigna Arredondo Bisonó, Yola Moride
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Arylsulfatase A
Birth prevalence
Epidemiology
Lysosomal storage disease
Metachromatic leukodystrophy
Systematic review
Online Access:https://doi.org/10.1186/s13023-024-03044-w

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