ArticleOrphanet journal of rare diseases2014
A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03017677 (The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis), which is not on this map. Cited by 34 papers.
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The Establishment of a Cross-specialty Collaboration Platform Among Different Medical Specialties Based on High-risk Criteria for Mucopolysaccharidosis Confirmative Diagnosis
Who cites it
34 citing papers in PubMed.
- Identification and Functional Characterization ofInternational journal of molecular sciences · 2019Trial
- 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
- Mucopolysaccharidoses: A biochemical study under limited resources.Molecular genetics and metabolism reports · 2025Article
- A glycomic workflow for LC-MS/MS analysis of urine glycosaminoglycan biomarkers in mucopolysaccharidoses.Glycoconjugate journal · 2023Article
- Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.Orphanet journal of rare diseases · 2022Article
- Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.International journal of molecular sciences · 2022Article
- Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of MutatedJournal of personalized medicine · 2022Article
- Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.International journal of neonatal screening · 2022Article
- Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.Journal of personalized medicine · 2022Article
- Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.Diagnostics (Basel, Switzerland) · 2021Article
- Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II.Orphanet journal of rare diseases · 2021Article
- Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy.Diagnostics (Basel, Switzerland) · 2020Article
- Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019).Orphanet journal of rare diseases · 2020Article
- Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.International journal of molecular sciences · 2020Review
- Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Article
- Odiparcil, a potential glycosaminoglycans clearance therapy in mucopolysaccharidosis VI-Evidence from in vitro and in vivo models.PloS one · 2020Article
- An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.Diagnostics (Basel, Switzerland) · 2019Article
- Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.Molecular and cellular biochemistry · 2019Article
- Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis.Scientific reports · 2019Article
- Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.Orphanet journal of rare diseases · 2019Review
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe identification of acid mucopolysaccharide by the liquid chromatography/tandem mass spectrometry method (LC-MS/MS) of the predominant disaccharide units of glycosaminoglycans (GAGs) (chondroitin sulfate, CS; dermatan sulfate, DS; heparan sulfate, HS) after methanolysis is validated and applicable for mucopolysaccharidosis (MPS) type determination.
methodsA total of 76 urine samples were collected and analyzed, from nine MPS I patients, 13 MPS II patients, seven MPS III patients, eight MPS VI patients, and 39 normal controls. Urinary GAG was first precipitated by the Alcian blue method followed by a treatment of 3 N HCl methanol. The protonated species of the methylated disaccharide products were detected by using a multiple reaction monitoring experiment. Internal standards, [2H6] CS, [2H6] DS and [2H6] HS, were prepared in-house by deuteriomethanolysis of CS, DS and HS.
resultsOne particular disaccharide for each GAG was selected, in which the parent ion and its daughter ion after collision were m/z 426.1 → 236.2 for DS (m/z 432 → 239 for dimers derived from [2H6] CS and [2H6] DS) and m/z 384.2 → 161.9 for HS (m/z 390.4 → 162.5 for the [2H6] HS dimer). The quantities of DS and HS were determined, which varied from one MPS type to the other. The results can be used to evaluate the severity of MPS subgroups, as well as urinary GAG amelioration at follow-up after enzyme replacement therapy (ERT).
conclusionsThe modified LC-MS/MS method for MPS type determination is specific, sensitive, validated, accurate, and applicable for simultaneous quantifications of urinary DS and HS. This method can help to make correct diagnosis of MPS patients and evaluate the effectiveness of ERT.
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