ArticleJournal of clinical laboratory analysis2018
Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.
Article in Journal of clinical laboratory analysis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.Scientific reports · 2021Trial
- Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy-Avoiding in vitro inhibition effects.Molecular genetics and metabolism reports · 2026Article
- Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study.Orphanet journal of rare diseases · 2026Article
- Seasonal Fluctuations and Stability of Adenosine in Dried Blood Spots for Neonatal Screening.International journal of neonatal screening · 2025Article
- Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study.Pharmacology research & perspectives · 2021Observational
- Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.Internal medicine (Tokyo, Japan) · 2021Observational
- Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.International journal of molecular sciences · 2020Article
- Dried Blood Spots for Global Health Diagnostics and Surveillance: Opportunities and Challenges.The American journal of tropical medicine and hygiene · 2018Review
- Effects of lyophilization and storage temperature on Wuchereria bancrofti antigen sensitivity and stability.BMC research notes · 2018Article
- Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.Journal of inherited metabolic disease · 2018Review
- Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.Journal of clinical laboratory analysis · 2018Article
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3 authors.
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Abstract
backgroundThe use of dried blood spots (DBS) for the assay of lysosomal enzymes has facilitated the implementation of pilot studies for newborn screening for lysosomal storage disorders in various developed countries. The aim of the study was to determine the influence of ambient temperature during DBS preparation and storage on lysosomal enzyme activity in a developing, tropical country.
methodsBlood samples from 12 healthy subjects collected on a S&S 903 filter paper were dried and stored at different temperatures for different periods of time. Activities of five lysosomal enzymes (acid α-glucosidase, acid α-galactosidase, acid β-glucocerebrosidase, acid sphingomyelinase, and galactocerebrosidase) were determined by tandem mass spectrometric and fluorimetric (acid α-glucosidase and acid β-glucocerebrosidase only) assays.
resultsThe mean activities of all five enzymes decreased significantly when DBS was dried at temperatures above 24°C (P<.0001). DBS stored at 4°C, 24°C, 30°C, 37°C, and 45°C for 10 days and more, also showed significant reduction in activities of all five enzymes (P<.0001).
conclusionThe results highlight the importance of maintaining the correct ambient temperature during DBS preparation and storage to avoid false positive results when screening for lysosomal storage disorders.
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