ReviewItalian journal of pediatrics2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
Review in Italian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 50 citations in OpenAlex.
- Advances in Therapies for Mucopolysaccharidoses.Current issues in molecular biology · 2026Review
- Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer's disease research.Neural regeneration research · 2026Article
- Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.International journal of molecular sciences · 2025Article
- Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Human genomics · 2024Review
- Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.Heliyon · 2024Article
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- [Natural history of mucopolysaccharidosis type III in a series of Colombian patients].Revista de neurologia · 2024Article
- Iron oxide-coupled CRISPR-nCas9-based genome editing assessment in mucopolysaccharidosis IVA mice.Molecular therapy. Methods & clinical development · 2023Article
- Sulfur-Element containing metabolic pathways in human health and crosstalk with the microbiome.Biochemistry and biophysics reports · 2023Review
- Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model.Biomolecules · 2023Article
- Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase.Bioinformation · 2023Article
- Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets.International journal of molecular sciences · 2022Review
- Misdiagnosis in mucopolysaccharidoses.Journal of applied genetics · 2022Review
- Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.Life (Basel, Switzerland) · 2022Review
- iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.Experimental cell research · 2022Article
- Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.International journal of molecular sciences · 2021Review
- Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.Orphanet journal of rare diseases · 2021Article
- Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Human mutation · 2021Review
- Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are all monogenic defects, transmitted in an autosomal recessive way, except for MPS type II which is X-linked. The enzymatic deficit causes a pathologic accumulation of undegraded or partially degraded substrates inside lysosomes as well as in the extracellular compartment. MPS generally present with recognizable signs and symptoms to raise a clinical suspicion. However, although they have individual peculiarities, often signs and symptoms may overlap between different MPS types. Therefore, a deeper evaluation of specific disease biomarkers becomes necessary to reach an appropriate diagnosis. This paper stresses the central role of the laboratory in completing and confirming the clinical suspicion of MPS according to a standardized procedure: first, a biochemical evaluation of the patient samples, including qualitative/quantitative urinary GAG analysis and a determination of enzyme activities, and then the molecular diagnosis. We also encourage a constant and close communication between clinicians and laboratory personnel to address a correct and early MPS diagnosis.
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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.