ReviewInternational journal of neonatal screening2020
Use of Dried Blood Spot Specimens to Monitor Patients with Inherited Metabolic Disorders.
Review in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Article
- Optimizing Dried Blood Spot Sampling for Children and Adolescents With Autism Spectrum Disorder.Therapeutic drug monitoring · 2026Article
- Derivatisation-free FIA-MS/MS assay for rapid simultaneous screening of atypical myopathy biomarkers and acylcarnitine profiles from dried blood spots.Analytical and bioanalytical chemistry · 2026Article
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Article
- Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria.Orphanet journal of rare diseases · 2025Article
- Discovery of molecular signature of long-term psychiatric sequelae in COVID-19 through proteome profiling of dried blood spots.Translational psychiatry · 2025Article
- NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain.International journal of molecular sciences · 2025Review
- Patient centric blood sampling and analysis for diagnostics and laboratory medicine.Bioanalysis · 2025Review
- Identification of an extraction protocol from dried blood spots for untargeted metabolomics: application to phenylketonuria.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Metabolomics and Lipidomics Explore Phenotype-Specific Molecular Signatures for Phenylketonuria.International journal of molecular sciences · 2025Article
- Revolutionizing DNA Extraction: A Cost-Effective Approach for Genomic DNA Retrieval from Dried Blood Spots.EJIFCC · 2025Article
- Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.Orphanet journal of rare diseases · 2025Article
- Analysis of small extracellular vesicles from dried blood spots.Frontiers in medical technology · 2025Article
- Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.International journal of neonatal screening · 2024Article
- Beyond the Tropics: Unraveling the Complex Relationship between Sun Exposure, Dietary Intake, and Vitamin D Deficiency in Coastal Malaysians.Nutrients · 2024Article
- Enhancing specimen collection skills for dried blood spots through an immersive virtual learning environment: a cross-sectional study.BMC research notes · 2024Article
- Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.International journal of neonatal screening · 2023Article
- Dried Blood Spots-A Platform for Therapeutic Drug Monitoring (TDM) and Drug/Disease Response Monitoring (DRM).European journal of drug metabolism and pharmacokinetics · 2023Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot (DBS) specimens has been routinely used since the inception of newborn screening (NBS) for phenylketonuria in the 1960s. The introduction of flow injection analysis tandem mass spectrometry (FIA-MS/MS) in the 1990s facilitated the expansion of NBS for IMDs. This has led to increased identification of patients who require biochemical monitoring. Monitoring of IMD patients using DBS specimens is widely favoured due to the convenience of collecting blood from a finger prick onto filter paper devices in the patient's home, which can then be mailed directly to the laboratory. Ideally, analytical methodologies with a short analysis time and high sample throughput are required to enable results to be communicated to patients in a timely manner, allowing prompt therapy adjustment. The development of ultra-performance liquid chromatography (UPLC-MS/MS), means that metabolic laboratories now have the capability to routinely analyse DBS specimens with superior specificity and sensitivity. This advancement in analytical technology has led to the development of numerous assays to detect analytes at low concentrations (pmol/L) in DBS specimens that can be used to monitor IMD patients. In this review, we discuss the pre-analytical, analytical and post-analytical variables that may affect the final test result obtained using DBS specimens used for monitoring of patients with an IMD.
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