ArticleZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences2022
Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry.
Article in Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy.Orphanet journal of rare diseases · 2025Article
- Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.Genome medicine · 2025Article
- Progress of newborn screening in China.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Design of Assessment Judging Model for Physical Education Professional Skills Course Based on Convolutional Neural Network and Few-Shot Learning.Computational intelligence and neuroscience · 2022Article
- Analysis of Graphic Perception Education for Young Children Based on Fuzzy Clustering Analysis.Computational intelligence and neuroscience · 2022Article
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Authors and funding
6 authors.
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Abstract
objectiveTo establish cut-off values of lysosomal storage disease (LSD)-related enzymes by tandem mass spectrometry.
methodsA total of 26 689 newborns and 7 clinically confirmed LSD children underwent screening for LSDs (glycogen storage disease typeⅡ, Fabry disease, mucopolysaccharidosis type Ⅰ, Krabbe disease, Niemann-Pick disease A/B and Gaucher disease). The activities of LSD-related enzymes were detected by tandem mass spectrometry. The 20% of the median enzyme activity of each batch of acid β-glucocerebrosidase, acid sphingomyelinase, β-galactocerebroside, α-
resultsThe enzyme activities of 7 clinically confirmed cases were all lower than the cut-off values. Among 26 689 newborns, 142 cases (0.53%) were suspected positive for LSDs, including 25 cases of β-galactocerebroside deficiency, 1 case of α-
conclusionThe established cut-off values of LSD-related enzyme activities detected by tandem mass spectrometry can be used for screening LSDs in neonates, and the enzyme activity would be affected by temperature and humidity.
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