ArticleActa paediatrica (Oslo, Norway : 1992)2007
A clinical study of 77 patients with mucopolysaccharidosis type II.
Article in Acta paediatrica (Oslo, Norway : 1992), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 2 of them syntheses that pooled it.
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Who cites it
59 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.Journal of inherited metabolic disease · 2013Pooled it
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Orphanet journal of rare diseases · 2011Guideline
- Three-dimensional Evaluation of Gait: Kinetics, Kinematics, and Electromyographic in Patients with Mucopolysacharidosis Types IV and VI.Revista brasileira de ortopedia · 2024Article
- Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.Molecular genetics and metabolism reports · 2023Article
- Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II.Molecular genetics and metabolism reports · 2023Article
- Non-invasive intravenous administration of AAV9 transducing iduronate sulfatase leads to global metabolic correction and prevention of neurologic deficits in a mouse model of Hunter syndrome.Molecular genetics and metabolism reports · 2023Article
- Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.Orphanet journal of rare diseases · 2022Article
- Surgical Management of Valvular Heart Disease in Mucopolysaccharidoses: A Review of Literature.Biomedicines · 2022Review
- Article
- Impact of the Timing of Enzyme Replacement Therapy Initiation and Cognitive Impairment Status on Outcomes for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review.Journal of health economics and outcomes research · 2022Article
- Assessment of the function and morphology of the thyroid gland in paediatric patients treated with enzyme replacement therapy due to selected storage diseases - preliminary results of our own research and a review of the literature.Pediatric endocrinology, diabetes, and metabolism · 2022Review
- Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.Molecular genetics and metabolism reports · 2021Article
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.Frontiers in molecular biosciences · 2021Article
- Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.International journal of medical sciences · 2021Article
- Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study.Orphanet journal of rare diseases · 2020Review
- Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate.The Biochemical journal · 2020Article
- Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.BioMed research international · 2020Review
- Approach to Patients with Neurometabolic Diseases Who Show Characteristic Signs and Symptoms.Iranian journal of child neurology · 2020Review
- An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States.Molecular genetics and metabolism reports · 2019Article
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24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThis study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II).
methodsDetails of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients.
resultsMean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years. For the whole sample (median age, 8.2 years; range, 2.8-53.0 years), neurological degeneration, typical pebbly skin lesions, seizures and extensive dermal melanocytosis were found in 23.3, 13.0, 13.0 and 1.3% of the cases, respectively. The most frequently reported echocardiogram abnormality was mitral valve regurgitation. Refraction errors were the most common ophthalmological manifestation. The following characteristics were found to be associated with the severe form of MPS II: earlier age at biochemical diagnosis, higher levels of urinary glycosaminoglycans, language development delay, behavioural disturbances, poor school performance and mental retardation.
conclusionOur results suggest that there is a considerable delay between the onset of signs and symptoms and the diagnosis of MPS II in Brazil (and probably in South America as well), and that many complications of this disease are underdiagnosed and undertreated. Therefore, the implementation of programmes aiming to increase the awareness of the disease, the availability of biochemical diagnostic tests and the provision of better support to affected patients is urgently needed.
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