ArticleNature chemical biology2012
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.
Article in Nature chemical biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 1 of them a synthesis that pooled it.
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Who cites it
94 citing papers in PubMed, 1 synthesis or guideline pooled it, 147 citations in OpenAlex.
- Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.Orphanet journal of rare diseases · 2020Pooled it
- A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.The Journal of clinical investigation · 2023Trial
- Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.Scientific reports · 2019Trial
- CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT.Molecular therapy. Advances · 2026Article
- Spatial Profiling of Glycosaminoglycans (GAGomics) From Laser Microdissected Mouse Brain.Molecular & cellular proteomics : MCP · 2026Article
- Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.Clinical proteomics · 2025Review
- Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.The Journal of clinical investigation · 2025Article
- Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome.Children (Basel, Switzerland) · 2025Review
- Quantitative HILIC-Q-TOF-MS Analysis of Glycosaminoglycans and Non-reducing End Carbohydrate Biomarkers via Glycan Reductive Isotopic Labeling.Analytical chemistry · 2025Article
- Multi-omic analysis of meningeal cerebral amyloid angiopathy reveals enrichment of unsubstituted glucosamine and extracellular proteins.Journal of neuropathology and experimental neurology · 2025Article
- College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance.Genetics in medicine open · 2025Article
- Biomarkers for gene therapy clinical trials of lysosomal storage disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.Clinical chemistry · 2024Article
- Chemical Synthesis of Δ-4,5 Unsaturated Heparan Sulfate Oligosaccharides for Biomarker Discovery.Organic letters · 2024Article
- Specific GAG ratios in the diagnosis of mucopolysaccharidoses.JIMD reports · 2024Article
- Biochemical signatures of disease severity in multiple sulfatase deficiency.Journal of inherited metabolic disease · 2024Article
- Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.Annals of neurology · 2023Article
- Skeletal phenotype amelioration in mucopolysaccharidosis VI requires intervention at the earliest stages of postnatal development.JCI insight · 2023Article
- 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
34 more citing papers are in PubMed but not listed here.
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8 authors at 3 institutions in 1 country.
Funding
Abstract
A considerable need exists for improved biomarkers for differential diagnosis, prognosis and monitoring of therapeutic interventions for mucopolysaccharidoses (MPS), inherited metabolic disorders that involve lysosomal storage of glycosaminoglycans. Here we report a simple, reliable method based on the detection of abundant nonreducing ends of the glycosaminoglycans that accumulate in cells, blood and urine of individuals with MPS. In this method, glycosaminoglycans are enzymatically depolymerized, releasing unique mono-, di- or trisaccharides from the nonreducing ends of the chains. The composition of the released mono- and oligosaccharides depends on the nature of the lysosomal enzyme deficiency, and therefore they serve as diagnostic biomarkers. Analysis by LC/MS allowed qualitative and quantitative assessment of the biomarkers in biological samples. We provide a simple conceptual scheme for diagnosing MPS in uncharacterized samples and a method to monitor efficacy of enzyme replacement therapy or other forms of treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.