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Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics
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 increasing n...
Autores principales: | Laugwitz, Lucia, Zizmare, Laimdota, Santhanakumaran, Vidiyaah, Cannet, Claire, Böhringer, Judith, Okun, Jürgen G., Spraul, Manfred, Krägeloh‐Mann, Ingeborg, Groeschel, Samuel, Trautwein, Christoph |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898726/ https://www.ncbi.nlm.nih.gov/pubmed/35281658 http://dx.doi.org/10.1002/jmd2.12273 |
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