Works matching DE "SANFILIPPO syndrome"
Results: 92
Perioperative care of a child with Sanfilippo syndrome for adenotonsillectomy.
- Published in:
- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2021, v. 9, n. 1, p. 30, doi. 10.14587/paccj.2021.5
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- Publication type:
- 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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- Publication type:
- 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
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1356
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- Article
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
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- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 665, doi. 10.3390/jpm12050665
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- Article
Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.
- Published in:
- 2025
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- Publication type:
- Case Study
Sanfilippo Disease.
- Published in:
- 2012
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- Publication type:
- Case Study
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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- Publication type:
- 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
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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- Publication type:
- Article
Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.
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- Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051268
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- Publication type:
- Article
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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
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- Metabolic Brain Disease, 2023, v. 38, n. 6, p. 2013, doi. 10.1007/s11011-023-01204-8
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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
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
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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- Publication type:
- Article
A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome).
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121511
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- Publication type:
- Article
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
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- 2017
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- Publication type:
- journal 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
External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical Manifestations.
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- Current Medical Literature: Lysosomal Storage Disease, 2014, v. 12, n. 1, p. 21
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- Article
Screening and Diagnosis.
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- Current Medical Literature: Lysosomal Storage Disease, 2014, v. 12, n. 1, p. 17
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- Article
Screening and Diagnosis.
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- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 128
- Publication type:
- Article
Current Management Options for Sanfilippo Syndrome.
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- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 101
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- Article
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.
- Published in:
- 2013
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- Publication type:
- Opinion
Novel Therapies.
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- 2012
- Publication type:
- Abstract
Novel Therapies.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 57
- Publication type:
- Article
Genetics.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 47
- Publication type:
- Article
Bone mineral density in patients with mucopolysaccharidosis type III.
- Published in:
- 2017
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- Publication type:
- journal 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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- Publication type:
- Article
Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?
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- Animal Genetics, 2022, v. 53, n. 4, p. 530, doi. 10.1111/age.13207
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- Publication type:
- Article
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
Chronic subdural hematoma associated with mucopolysaccharidosis type III B (Sanfilippo's syndrome B).
- Published in:
- 2016
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- Publication type:
- Letter
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
OCCURRENCE OF SANFILIPPO SYNDROME IN TWO SISTERS.
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- 2015
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- Publication type:
- Case Study
Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB.
- Published in:
- Scientific Reports, 2015, p. 17143, doi. 10.1038/srep17143
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- Publication type:
- Article
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.
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- Scientific Reports, 2015, p. 13654, doi. 10.1038/srep13654
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- Publication type:
- Article
Molecular-genetic characterization of Ukrainian patients with mucopolysaccharidosis IIIA: identification of three new mutations in the heparan-N-sulfatase gene.
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- Biopolymers & Cell, 2016, v. 32, n. 5, p. 359, doi. 10.7124/bc.00092D
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- Article
Specificities of Sanfilippo A syndrome laboratory diagnostics.
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- Biopolymers & Cell, 2014, v. 30, n. 5, p. 388, doi. 10.7124/bc.0008B6
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
An adolescent with Sanfilippo type 3B and effect of aripiprazole and atomoxetine treatment: a case report.
- Published in:
- 2013
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- Publication type:
- Abstract