ReviewDiagnostics (Basel, Switzerland)2020
Diagnosis of Mucopolysaccharidoses.
Review in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).International journal of environmental research and public health · 2020Pooled it
- Towards an agreed approach to investigate children with developmental regression.BMJ paediatrics open · 2025Article
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
- A novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation.Journal of orthopaedic surgery and research · 2025Article
- Analysis of genomic ancestry and characterization of a new variant in MPS type VII.Orphanet journal of rare diseases · 2025Article
- Salivary Proteome Insights: Evaluation of Saliva Preparation Methods in Mucopolysaccharidoses Research.Biomedicines · 2025Article
- Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.Molecular genetics and metabolism reports · 2025Article
- Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy.Journal of inherited metabolic disease · 2025Article
- The diagnosis and management of mucopolysaccharidosis type II.Italian journal of pediatrics · 2024Review
- Three-dimensional Evaluation of Gait: Kinetics, Kinematics, and Electromyographic in Patients with Mucopolysacharidosis Types IV and VI.Revista brasileira de ortopedia · 2024Article
- Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.Diagnostics (Basel, Switzerland) · 2024Article
- Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?Diagnostics (Basel, Switzerland) · 2024Review
- Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.Orphanet journal of rare diseases · 2024Article
- Molecular therapy and nucleic acid adeno-associated virus-based gene therapy delivering combinations of two growth-associated genes to MPS IVA mice.Molecular therapy. Nucleic acids · 2024Article
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- [Natural history of mucopolysaccharidosis type III in a series of Colombian patients].Revista de neurologia · 2024Article
- Specific GAG ratios in the diagnosis of mucopolysaccharidoses.JIMD reports · 2024Article
- Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape.Neural regeneration research · 2024Review
- Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families.Frontiers in genetics · 2024Article
- Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models.Molecular genetics and metabolism reports · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans (GAGs). Although most MPS types present increased levels of GAGs in tissues, including blood and urine, diagnosis is challenging as specific enzyme assays are needed for the correct diagnosis. Enzyme assays are usually performed in blood, with some samples (as leukocytes) providing a final diagnosis, while others (such as dried blood spots) still being considered as screening methods. The identification of variants in the specific genes that encode each MPS-related enzyme is helpful for diagnosis confirmation (when needed), carrier detection, genetic counseling, prenatal diagnosis (preferably in combination with enzyme assays) and phenotype prediction. Although the usual diagnostic flow in high-risk patients starts with the measurement of urinary GAGs, it continues with specific enzyme assays and is completed with mutation identification; there is a growing trend to have genotype-based investigations performed at the beginning of the investigation. In such cases, confirmation of pathogenicity of the variants identified should be confirmed by measurement of enzyme activity and/or identification and/or quantification of GAG species. As there is a growing number of countries performing newborn screening for MPS diseases, the investigation of a low enzyme activity by the measurement of GAG species concentration and identification of gene mutations in the same DBS sample is recommended before the suspicion of MPS is taken to the family. With specific therapies already available for most MPS patients, and with clinical trials in progress for many conditions, the specific diagnosis of MPS as early as possible is becoming increasingly necessary. In this review, we describe traditional and the most up to date diagnostic methods for mucopolysaccharidoses.
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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.