ArticleInternational journal of neonatal screening2020
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.
Article 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 31 papers.
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Who cites it
31 citing papers in PubMed, 37 citations in OpenAlex.
- Role of the Gut-Liver-Kidney Axis in Disease Manifestation and Biomarker Alterations.International journal of molecular sciences · 2026Review
- Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.Biochemistry and biophysics reports · 2026Article
- Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.International journal of neonatal screening · 2026Article
- Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.Clinical proteomics · 2025Review
- Biomarkers of Microcirculatory Dysfunction in Sepsis: A Pilot Prospective Observational Study.Critical care explorations · 2025Observational
- Synthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA.Carbohydrate research · 2025Article
- A new route for the preparation of iduronate-2-sulfate glycosides: A new substrate for iduronate-2-sulfatase for screening and diagnosis of Mucopolysaccharidosis-II.Carbohydrate research · 2025Article
- Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.American journal of medical genetics. Part A · 2025Article
- High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis.Molecular genetics and metabolism · 2025Article
- Functional assessment of IDUA variants of uncertain significance identified by newborn screening.NPJ genomic medicine · 2024Article
- Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.Clinical chemistry · 2024Article
- Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.Molecular genetics and metabolism · 2024Article
- Biochemical signatures of disease severity in multiple sulfatase deficiency.Journal of inherited metabolic disease · 2024Article
- Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans.Molecular genetics and metabolism · 2023Review
- Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results.Molecular genetics and metabolism · 2023Review
- Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III.Molecular genetics and metabolism reports · 2023Article
- A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.Scientific reports · 2023Article
- Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector.Human molecular genetics · 2023Article
- Newborn screening for genetic disorders: Current status and prospects for the future.Pediatric investigation · 2022Review
- Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.International journal of neonatal screening · 2022Review
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
All newborn screening (NBS) for mucopolysaccharidosis-I (MPS-I) is carried out by the measurement of α-iduronidase (IDUA) enzymatic activity in dried blood spots (DBS). The majority of low enzyme results are due to pseudodeficiencies, and studies from the Mayo Clinic have shown that the false positive rate can be greatly reduced by including a second-tier analysis of glycosaminoglycans (GAGs) in DBS as part of NBS. In the present study, we obtained newborn DBS from 13 patients with severe MPS-I and 2 with attenuated phenotypes. These samples were submitted to four different GAG mass spectrometry analyses in a comparative study: (1) internal disaccharide; (2) endogenous disaccharide; (3) Sensi-Pro; (4) Sensi-Pro Lite (a variation of Sensi-Pro with a simplified workflow). Patients with attenuated MPS-I show less GAG elevation than those with severe disease, and all MPS-I patients were separated from the reference range using all four methods. The minimal differential factor (lowest GAG marker level in MPS-I samples divided by highest level in the reference range of 30 random newborns) was about two for internal disaccharide, Sensi-Pro, and Sensi-Pro Lite methods. The endogenous disaccharide was clearly the best method with a minimal differential of 16-fold. This study supports use of second-tier GAG analysis of newborn DBS, especially the endogenous disaccharide method, as part of NBS to reduce the false positive rate.
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