ArticleDiagnostic pathology2010
Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience.
Article in Diagnostic pathology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 40 citations in OpenAlex.
- Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.Renal failure · 2025Article
- Development of a Lentiviral Vector for High-Yield Production of Synthetic and Recombinant GCase for Gaucher Disease Therapy.International journal of molecular sciences · 2025Article
- α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.Orphanet journal of rare diseases · 2024Article
- Bone disease in early detected Gaucher Type I disease: A case report.JIMD reports · 2022Article
- Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.Metabolic brain disease · 2021Article
- Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.Orphanet journal of rare diseases · 2020Observational
- Diagnostic methods for Lysosomal Storage Disease.Reports of biochemistry & molecular biology · 2019Article
- Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.JIMD reports · 2017Article
- Advantages and Challenges of Dried Blood Spot Analysis by Mass Spectrometry Across the Total Testing Process.EJIFCC · 2016Article
- Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran.Indian journal of clinical biochemistry : IJCB · 2015Article
- Article
- Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.JIMD reports · 2015Article
- Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.European journal of pediatrics · 2013Article
- Revised recommendations for the management of Gaucher disease in children.European journal of pediatrics · 2013Review
- Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.JIMD reports · 2013Article
- Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis.Journal of clinical laboratory analysis · 2011Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment. This study reports interval values for the activity of lysosomal enzymes that are deficient in Mucopolysaccharidosis type I, Fabry, Gaucher and Pompe disease, using dried blood spots on filter paper (DBS) samples in a Brazilian population.
resultsReference activity values were obtained from healthy volunteers samples for alpha-galactosidase A (4.57 ± 1.37 umol/L/h), beta-glucosidase (3.06 ± 0.99 umol/L/h), alpha-glucosidase (ratio: 13.19 ± 4.26; % inhibition: 70.66 ± 7.60), alpha-iduronidase (3.45 ± 1.21 umol/L/h) and beta-galactosidase (14.09 ± 4.36 umol/L/h).
conclusionReference values of five lysosomal enzymes were determined for a Brazilian population sample. However, as our results differ from other laboratories, it highlights the importance of establishing specific reference values for each center.
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