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...

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Sparad:
Bibliografiska uppgifter
I publikationen:Neurogenetics
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2020
Ämnen:
Original Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7476914/
https://ncbi.nlm.nih.gov/pubmed/32632536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-020-00621-6
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