Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics

Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics

Abstract Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency of the arylsulfatase A (ARSA). ARSA deficiency leads to an accumulation of sulfatides primarily in the nervous system ultimately causing demyelination. With evolving therapeutic options, there is an inc...

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Bibliographic Details
Main Authors: Lucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, Claire Cannet, Judith Böhringer, Jürgen G. Okun, Manfred Spraul, Ingeborg Krägeloh‐Mann, Samuel Groeschel, Christoph Trautwein
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:JIMD Reports
Subjects:
arylsulfatase A
metachromatic leukodystrophy
N‐acetylaspartate
neopterin
nuclear magnetic resonance
urine metabolomics
Online Access:https://doi.org/10.1002/jmd2.12273

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