ReviewAJNR. American journal of neuroradiology2013
Brain and spinal MR imaging findings in mucopolysaccharidoses: a review.
Review in AJNR. American journal of neuroradiology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled 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
- Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.Molecular genetics and metabolismTrial
- Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis.Molecular genetics and metabolism reports · 2026Review
- TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model.Experimental & molecular medicine · 2026Article
- Diffuse Leukoencephalopathy and Ischemic Stroke in Hunter Syndrome: Interesting Case with Review of Literature.Annals of Indian Academy of Neurology · 2025Article
- Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.Radiology case reports · 2025Article
- The hidden burden of lysosomal dysfunction: visual decline and microphthalmia in Hunter syndrome.Arquivos de neuro-psiquiatria · 2025Article
- Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.Diagnostics (Basel, Switzerland) · 2025Article
- Enlarged perivascular spaces under the dorso-lateral prefrontal cortex and severity of autism.Scientific reports · 2025Observational
- Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.Journal of inherited metabolic disease · 2025Article
- Atypical Neuroimaging Findings in a Patient With Mucopolysaccharidosis Type VII (Sly Syndrome).Cureus · 2024Article
- Alteration of mechanical stresses in the murine brain by age and hemorrhagic stroke.PNAS nexus · 2024Article
- Overview of the Current Knowledge and Conventional MRI Characteristics of Peri- and Para-Vascular Spaces.Brain sciences · 2024Review
- Venous Sinus Stenosis with Prominent Emissary Veins: A New Common Cranial MRI Finding of Mucopolysaccharidosis I.AJNR. American journal of neuroradiology · 2023Article
- Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.Cell biochemistry and biophysics · 2023Article
- Mapping brain networks in MPS I mice and their restoration following gene therapy.Scientific reports · 2023Article
- Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nature medicine · 2023Article
- Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.Metabolites · 2023Article
- Brain perivascular spaces and autism: clinical and pathogenic implications from an innovative volumetric MRI study.Frontiers in neuroscience · 2023Article
- Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases.North American Spine Society journal · 2022Article
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2 authors.
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No grant is acknowledged in the PubMed record.
Abstract
MPS represents a group of rare hereditary disorders characterized by multisystem involvement due to intralysosomal GAG accumulation. Among various tissues, both the central and peripheral nervous system are affected in almost all types of the disease. Thus, brain and spinal MR imaging are valuable tools for the assessment of neurologic involvement, and there is evidence that they might be reliable markers demonstrating disease severity and efficacy of treatment options currently used in patients with MPS. We aimed to review the most prominent MR imaging features of patients with MPS, paying attention to the physiopathologic mechanisms responsible for these alterations. Along with the description of neuroimaging findings, existing data in relation to their correlation with the severity of neurologic involvement is discussed, while another topic of great importance is the effect of various therapeutic regimens in the progression of brain and spinal MR imaging alterations. Finally, recent data concerning MR spectroscopy studies in MPS are also critically discussed.
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