Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited sulfatide storage disease caused by deficient activity of the lysosomal enzyme arylsulfatase A (ASA). Genetic analysis of the ARSA gene is important in MLD diagnosis and screening of family members. In addition, more informatio...

Descripción completa

Detalles Bibliográficos
Autores principales: Beerepoot, Shanice, van Dooren, Silvy J.M., Salomons, Gajja S., Boelens, Jaap Jan, Jacobs, Edwin H., van der Knaap, Marjo S., van Kuilenburg, André B.P., Wolf, Nicole I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476914/
https://www.ncbi.nlm.nih.gov/pubmed/32632536
http://dx.doi.org/10.1007/s10048-020-00621-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476914/
https://www.ncbi.nlm.nih.gov/pubmed/32632536
http://dx.doi.org/10.1007/s10048-020-00621-6

Ejemplares similares