Corrigendum to “Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges” Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282

Molecular Genetics and Metabolism(2023)

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摘要
ARSA activity in leukocytes as well as the ARSA genotype can predict the age of disease onset and the dynamic of disease progression for most of the early onset forms. This knowledge is relevant for patient counseling and to guide treatment decisions, especially when identifying pre-symptomatic individuals, e.g., in newborn screening. However, due to the high cumulative frequency of rare disease-causing missense variants in the ARSA gene that lead to highly variable residual enzyme activity, reiterated biochemical and genetic studies are needed to improve disease course prediction.
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关键词
ARSA activity,Metachromatic leukodystrophy,Genotype-phenotype correlation
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