Works matching DE "SANFILIPPO syndrome"
Results: 91
Is the eye a window to the brain in Sanfilippo syndrome?
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01070-w
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- Article
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03371-y
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- Article
mRNA Degradation as a Therapeutic Solution for Mucopolysaccharidosis Type IIIC: Use of Antisense Oligonucleotides to Promote Downregulation of Heparan Sulfate Synthesis.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 3, p. 1273, doi. 10.3390/ijms26031273
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- Article
The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8856, doi. 10.3390/ijms25168856
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- Article
Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 13988, doi. 10.3390/ijms241813988
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- Article
An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5948, doi. 10.3390/ijms22115948
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- Article
Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7819, doi. 10.3390/ijms21217819
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- Article
The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 304, doi. 10.3390/ijms20020304
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- Article
Whole Body and CNS Biodistribution of rhHNS in Cynomolgus Monkeys after Intrathecal Lumbar Administration: Treatment Implications for Patients with MPS IIIA.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 12, p. 2594, doi. 10.3390/ijms18122594
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- Article
A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B).
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- 2018
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- Case Study
OCCURRENCE OF SANFILIPPO SYNDROME IN TWO SISTERS.
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- 2015
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- Case Study
Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.
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- Toxins, 2024, v. 16, n. 7, p. 286, doi. 10.3390/toxins16070286
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- Article
Sanfilippo syndrome: causes, consequences, and treatments.
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- Application of Clinical Genetics, 2015, v. 8, p. 269, doi. 10.2147/TACG.S57672
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- Article
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 78, doi. 10.1186/s13023-014-0180-y
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- Article
Natural history of Sanfilippo syndrome in Spain.
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- 2013
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- journal article
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
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- BMC Psychiatry, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12888-023-05422-3
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- Article
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
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- 2017
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- journal article
Blood-brain barrier impairment in MPS III patients.
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- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-174
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- Article
An adolescent with Sanfilippo type 3B and effect of aripiprazole and atomoxetine treatment: a case report.
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- 2013
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- Abstract
Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases.
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- Life (2075-1729), 2025, v. 15, n. 1, p. 70, doi. 10.3390/life15010070
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- Article
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.
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- 2014
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- Case Study
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia.
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- Journal of Child Neurology, 2017, v. 32, n. 2, p. 177, doi. 10.1177/0883073816672391
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- Article
Incentives for Starting Small Companies Focused on Rare and Neglected Diseases.
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- Pharmaceutical Research, 2016, v. 33, n. 4, p. 809, doi. 10.1007/s11095-015-1841-9
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- Article
Pathological and Biochemical Studies of Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) in Juvenile Emus (Dromaius novaehollandiae).
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- Veterinary Pathology, 2015, v. 52, n. 1, p. 160, doi. 10.1177/0300985814529314
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- Article
Abnormal Gangliosides are Localized in Lipid Rafts in Sanfilippo (MPS3a) Mouse Brain.
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- Neurochemical Research, 2012, v. 37, n. 6, p. 1372, doi. 10.1007/s11064-012-0761-x
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- Article
Azurophilic inclusions in lymphocytes and plasma cells: a case of Sanfilippo disease.
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- British Journal of Haematology, 2014, v. 164, n. 5, p. 618, doi. 10.1111/bjh.12658
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- Article
Bone mineral density in patients with mucopolysaccharidosis type III.
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- 2017
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- Publication type:
- journal article
Perioperative care of a child with Sanfilippo syndrome for adenotonsillectomy.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2021, v. 9, n. 1, p. 30, doi. 10.14587/paccj.2021.5
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- Article
An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome).
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45178-0
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- Article
Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1254909
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- Article
Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.
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- Journal of Multidisciplinary Healthcare, 2022, v. 15, p. 2097, doi. 10.2147/JMDH.S362994
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- Article
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
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- PLoS ONE, 2018, p. 1, doi. 10.1371/journal.pone.0200008
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- Article
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA.
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- Journal of Neurochemistry, 2016, v. 137, n. 3, p. 409, doi. 10.1111/jnc.13533
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- Article
Gastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.
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- Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4445, doi. 10.3390/jcm10194445
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- Article
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 644, doi. 10.3390/jcm9030644
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- Article
Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions.
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- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-77032-y
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- Article
Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.
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- Neurology & Therapy, 2021, v. 10, n. 1, p. 197, doi. 10.1007/s40120-020-00226-z
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- Article
Mucopolysaccharidosis Type IIIA presents as a variant of Klüver–Bucy syndrome.
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- Journal of Clinical & Experimental Neuropsychology, 2013, v. 35, n. 6, p. 608, doi. 10.1080/13803395.2013.804035
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- Article
Mucopolysaccharidosis III: Molecular basis and treatment.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2021, v. 27, n. 3, p. 199, doi. 10.5114/pedm.2021.109270
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- Article
General anesthesia with a native airway for patients with mucopolysaccharidosis type III.
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- Pediatric Anesthesia, 2017, v. 27, n. 4, p. 370, doi. 10.1111/pan.13108
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- Article
Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): a review of 86 anesthetics.
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- Pediatric Anesthesia, 2017, v. 27, n. 4, p. 363, doi. 10.1111/pan.13075
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- Article
Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders.
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- Antioxidants, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/antiox11040678
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- Article
Is Mucopolysaccharidosis a Cause of Sleep and Speech Disorders? Report of Four Cases?
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- 2020
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- Publication type:
- Case Study
High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector.
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- Gene Therapy, 2014, v. 21, n. 12, p. 1001, doi. 10.1038/gt.2014.75
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- Article
Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice.
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- Gene Therapy, 2013, v. 20, n. 9, p. 913, doi. 10.1038/gt.2013.14
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- Article
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu ( Dromaius novaehollandiae ) flock.
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- Avian Pathology, 2018, v. 47, n. 1, p. 100, doi. 10.1080/03079457.2017.1380293
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- Article
Assessment of Sleep in Children with Mucopolysaccharidosis Type III.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0084128
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- Article
A Rapid and Sensitive Method for Measuring N-Acetylglucosaminidase Activity in Cultured Cells.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0068060
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- Article
Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B.
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- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0027461
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- Article
Blood-Brain Barrier Impairment in an Animal Model of MPS III B.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0016601
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- Publication type:
- Article