Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Abstract Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimaging findings are similar, and arylsulfatase A (ARSA)...

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Bibliographic Details
Main Authors: Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:JIMD Reports
Subjects:
multiple sulfatase deficiency
SUMF1
metachromatic leukodystrophy
lysosomal storage disorder
natural course
arylsulfatase A deficiency
Online Access:https://doi.org/10.1002/jmd2.12189

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