Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in the ARSA gene exhibit reduced ARSA activity. In the context...

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Detalles Bibliográficos
Autores principales: Laugwitz, Lucia, Santhanakumaran, Vidiyaah, Spieker, Mareike, Boehringer, Judith, Bender, Benjamin, Gieselmann, Volkmar, Beck‐Woedl, Stefanie, Bruchelt, Gernot, Harzer, Klaus, Kraegeloh‐Mann, Ingeborg, Groeschel, Samuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259399/
https://www.ncbi.nlm.nih.gov/pubmed/35822086
http://dx.doi.org/10.1002/jmd2.12293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259399/
https://www.ncbi.nlm.nih.gov/pubmed/35822086
http://dx.doi.org/10.1002/jmd2.12293

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