ArticleMolecular genetics and metabolism2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.
Article in Molecular genetics and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots.Orphanet journal of rare diseases · 2026Article
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.International journal of neonatal screening · 2025Review
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
Ex vivo gene therapy combined with haemapoietic stem cell transplant has recently been approved in Europe and the USA for treatment of metachromatic leukodystrophy (MLD). Since treatment is only efficacious if carried out in the pre-symptomatic or minimally-symptomatic phases, newborn screening (NBS) for MLD is warranted. MLD NBS is being developed worldwide through the International MLD Newborn Screening Alliance. Screening is carried out by measurement of the elevation of two sulfatide molecular species, 16: 0- and 16:1-OH-sulfatide in dried blood spots (DBS) followed by second-tier measurement of arylsulfatase A (ARSA) enzymatic activity in the same DBS. After 2-3 years of NBS assay development including pilot studies, members of the International MLD Newborn Screening Alliance arrived at a consensus set of assay protocols. In this article, we provide these protocols with full details so that the methods can be readily adopted by additional NBS laboratories. We also provide the full details of preparation of the required reagents.
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Registered trials
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