ArticleJournal of inherited metabolic disease2017
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 69 citations in OpenAlex.
- AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.International journal of molecular sciences · 2026Article
- Article
- Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice.Human gene therapy · 2024Article
- Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineeredHeliyon · 2024Article
- Multisystem Involvement in a Pediatric Patient With Suspected Mucopolysaccharidosis: A Case Report.Cureus · 2024Article
- Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III.Current medicinal chemistry · 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
- Detection of Glycosaminoglycans in Biological Specimens.Methods in molecular biology (Clifton, N.J.) · 2023Article
- A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.International journal of neonatal screening · 2022Review
- Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy.International journal of molecular sciences · 2022Article
- MPSI Manifestations and Treatment Outcome: Skeletal Focus.International journal of molecular sciences · 2022Review
- Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.International journal of neonatal screening · 2022Article
- Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders.Diagnostics (Basel, Switzerland) · 2021Article
- Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.Diagnostics (Basel, Switzerland) · 2021Article
- Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.International journal of neonatal screening · 2020Review
- Development of Strategies to Decrease False Positive Results in Newborn Screening.International journal of neonatal screening · 2020Review
- Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.Molecular therapy. Methods & clinical development · 2020Article
- Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.International journal of neonatal screening · 2020Article
- Newborn screening of mucopolysaccharidoses: past, present, and future.Journal of human genetics · 2020Review
- Advances in glycosaminoglycan detection.Molecular genetics and metabolism · 2020Review
Corrections and comments
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Authors and funding
15 authors at 10 institutions in 6 countries.
Funding
Abstract
backgroundMucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral, and/or brain damage, highlighting a need for early diagnosis.
methodsThis pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5). Disaccharides were produced from polymer GAGs by digestion with chondroitinase B, heparitinase, and keratanase II. Heparan sulfate (0S, NS), dermatan sulfate (DS) and mono- and di-sulfated KS were measured by liquid chromatography tandem mass spectrometry (LC-MS/MS). Median absolute deviation (MAD) was used to determine cutoffs to distinguish patients from controls. Cutoffs were defined as median + 7× MAD from general newborns.
resultsThe cutoffs were as follows: HS-0S > 90 ng/mL; HS-NS > 23 ng/mL, DS > 88 ng/mL; mono-sulfated KS > 445 ng/mL; di-sulfated KS > 89 ng/mL and ratio di-KS in total KS > 32 %. All MPS I and II samples were above the cutoffs for HS-0S, HS-NS, and DS, and all MPS III samples were above cutoffs for HS-0S and HS-NS. The rate of false positives for MPS I and II was 0.03 % based on a combination of HS-0S, HS-NS, and DS, and for MPS III was 0.9 % based upon a combination of HS-0S and HS-NS.
conclusionsCombination of levels of two or more different GAGs improves separation of MPS patients from unaffected controls, indicating that GAG measurements are potentially valuable biomarkers for newborn screening for MPS.
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