GuidelineOrphanet journal of rare diseases2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Guideline in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 3 of them syntheses that pooled it.
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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
112 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review.International journal of molecular sciences · 2024Pooled it
- 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
- Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT.Orphanet journal of rare diseases · 2023Trial
- The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life.Orphanet journal of rare diseases · 2013Trial
- Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.Molecular genetics and metabolismTrial
- Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings.Molecular genetics and metabolism reports · 2026Article
- Article
- Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.International journal of neonatal screening · 2026Review
- An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.BMC health services research · 2026Observational
- Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.Healthcare (Basel, Switzerland) · 2026Article
- Review
- Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.JIMD reports · 2026Article
- Guidelines for home-based enzyme replacement therapy in children and adolescents with mucopolysaccharidosis: a scoping review.Revista da Escola de Enfermagem da U S P · 2026Article
- Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.Orphanet journal of rare diseases · 2025Article
- Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.Neurogenetics · 2025Article
- Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.American journal of medical genetics. Part C, Seminars in medical genetics · 2025Review
- Multiple large language models versus experienced physicians in diagnosing challenging cases with gastrointestinal symptoms.NPJ digital medicine · 2025Article
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
52 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledMucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies. TAKE-HOME MESSAGE: Expertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.
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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.