ReviewThe application of clinical genetics2015
Sanfilippo syndrome: causes, consequences, and treatments.
Review in The application of clinical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
What it found
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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
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 125 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Epidemiology of Sanfilippo syndrome: results of a systematic literature review.Orphanet journal of rare diseases · 2018Pooled it
- Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026Review
- Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine.Current issues in molecular biology · 2025Review
- Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.Molecular genetics and metabolism reports · 2025Article
- Tiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome.Annals of medicine and surgery (2012) · 2025Article
- Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.Case reports in dentistry · 2025Article
- Structure and mechanism of lysosome transmembrane acetylation by HGSNAT.Nature structural & molecular biology · 2024Article
- Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.Cureus · 2024Review
- Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).Journal of cellular and molecular medicine · 2024Article
- Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III.Current medicinal chemistry · 2024Article
- An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome).Scientific reports · 2023Article
- Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.Metabolic brain disease · 2023Article
- Intraparenchymal convection enhanced delivery of AAV in sheep to treat Mucopolysaccharidosis IIIC.Journal of translational medicine · 2023Article
- Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.Frontiers in genetics · 2023Article
- Detection of Glycosaminoglycans in Biological Specimens.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease.Molecular therapy. Methods & clinical development · 2022Article
- Sanfilippo syndrome: consensus guidelines for clinical care.Orphanet journal of rare diseases · 2022Review
- Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.Journal of personalized medicine · 2022Article
- What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?Molecular syndromology · 2022Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sanfilippo syndrome, or mucopolysaccharidosis (MPS) type III, refers to one of five autosomal recessive, neurodegenerative lysosomal storage disorders (MPS IIIA to MPS IIIE) whose symptoms are caused by the deficiency of enzymes involved exclusively in heparan sulfate degradation. The primary characteristic of MPS III is the degeneration of the central nervous system, resulting in mental retardation and hyperactivity, typically commencing during childhood. The significance of the order of events leading from heparan sulfate accumulation through to downstream changes in the levels of biomolecules within the cell and ultimately the (predominantly neuropathological) clinical symptoms is not well understood. The genes whose deficiencies cause the MPS III subtypes have been identified, and their gene products, as well as a selection of disease-causing mutations, have been characterized to varying degrees with respect to both frequency and direct biochemical consequences. A number of genetic and biochemical diagnostic methods have been developed and adopted by diagnostic laboratories. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. The availability of animal models for all forms of MPS III, whether spontaneous or generated via gene targeting, has contributed to improved understanding of the MPS III subtypes, and has provided and will deliver invaluable tools to appraise emerging therapies. Indeed, clinical trials to evaluate intrathecally-delivered enzyme replacement therapy in MPS IIIA patients, and gene therapy for MPS IIIA and MPS IIIB patients are planned or underway.
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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.