Cargando…
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of sulfatides in neural and visceral tissues, and causes demyelination of the central and per...
Autores principales: | Beerepoot, Shanice, Nierkens, Stefan, Boelens, Jaap Jan, Lindemans, Caroline, Bugiani, Marianna, Wolf, Nicole I. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829806/ https://www.ncbi.nlm.nih.gov/pubmed/31684987 http://dx.doi.org/10.1186/s13023-019-1220-4 |
Ejemplares similares
-
Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
por: Wolf, Nicole I., et al.
Publicado: (2020) -
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
por: Al‐Saady, Murtadha, et al.
Publicado: (2023) -
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
por: Beerepoot, Shanice, et al.
Publicado: (2021) -
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
por: Schoenmakers, Daphne H., et al.
Publicado: (2022) -
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients
por: Beerepoot, Shanice, et al.
Publicado: (2020)