Works matching DE "MUCOPOLYSACCHARIDOSIS II"
Results: 113
Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.
- Published in:
- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/2408402
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- Publication type:
- Article
Ultrasonographic evaluation of the median nerve at the level of the carpal tunnel outlet and mid forearm in patients with type II Mucopolysaccharidosis.
- Published in:
- 2016
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- Publication type:
- journal article
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2014, doi. 10.3390/ijms20082014
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- Publication type:
- Article
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II MouseModel.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 5, p. 1072, doi. 10.3390/ijms18051072
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- Publication type:
- Article
Less Is More: Substrate Reduction Therapy for Lysosomal Storage Disorders.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 7, p. 1065, doi. 10.3390/ijms17071065
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- Publication type:
- Article
Hunter's syndrome: A case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
- Published in:
- Journal of Molecular Medicine, 2017, v. 95, n. 3, p. 299, doi. 10.1007/s00109-016-1484-2
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- Article
Letter to the Editor concerning "Rotational vertebral artery occlusion ('bow hunter syndrome')" by Schulz R, Donoso R, Weissman K (Eur Spine J. 2021 Jan 2. doi:10.1007/s00586-020-06, 680-5).
- Published in:
- 2021
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- Publication type:
- Letter
Production and characterization of a human lysosomal recombinant iduronate‐2‐sulfatase produced in Pichia pastoris.
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- Biotechnology & Applied Biochemistry, 2018, v. 65, n. 5, p. 655, doi. 10.1002/bab.1660
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- Publication type:
- Article
Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome).
- Published in:
- 2018
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- Publication type:
- Case Study
Hunter's syndrome and the airway: Implications for the anesthesiologist - A correspondence.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Characteristic 'pebbling' skin eruption as a presenting sign of Hunter syndrome.
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- International Journal of Dermatology, 2014, v. 53, n. 12, p. e594, doi. 10.1111/ijd.12206
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- Publication type:
- Article
Mucopolysaccharidosis type III ( Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder.
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- Acta Paediatrica, 2013, v. 102, n. 5, p. 462, doi. 10.1111/apa.12169
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- Publication type:
- Article
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 1, p. e42, doi. 10.1111/j.1651-2227.2011.02385.x
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- Publication type:
- Article
Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.
- Published in:
- 2017
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- Publication type:
- journal article
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Multi-criteria decision analysis (MCDA): testing a proposed MCDA framework for orphan drugs.
- Published in:
- 2017
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- Publication type:
- journal article
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
- Published in:
- 2016
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- Publication type:
- journal article
Impact of orphan drugs on Latvian budget.
- Published in:
- 2016
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- Publication type:
- journal article
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.
- Published in:
- 2016
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- Publication type:
- journal article
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0265-2
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- Publication type:
- Article
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0259-0
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- Publication type:
- Article
The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-101
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- Publication type:
- Article
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-92
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- Publication type:
- Article
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-42
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- Publication type:
- Article
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
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- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 72, doi. 10.1186/1750-1172-6-72
- Publication type:
- Article
New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0564-z
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- Publication type:
- Article
Enzyme replacement therapy: efficacy and limitations.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0562-1
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- Publication type:
- Article
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.
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- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0561-2
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- Publication type:
- Article
Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0560-3
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- Publication type:
- Article
Editorial.
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- Indian Pediatrics, 2016, v. 53, n. 2, p. 115, doi. 10.1007/s13312-016-0803-6
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- Publication type:
- Article
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
- Published in:
- 2019
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- Publication type:
- Case Study
Growth and Related Treatment Factors in Mucopolysaccharidoses Type I and II: A Systematic Review.
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- Journal of Pediatrics Review, 2023, v. 11, n. 4, p. 301, doi. 10.32598/jpr.11.4.512.4
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- Publication type:
- Article
The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: item reduction and further validation.
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- Quality of Life Research, 2014, v. 23, n. 9, p. 2457, doi. 10.1007/s11136-014-0703-y
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- Publication type:
- Article
The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) Questionnaire: evaluation of measurement properties.
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- Quality of Life Research, 2013, v. 22, n. 4, p. 875, doi. 10.1007/s11136-012-0196-5
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- Publication type:
- Article
Determining the sensory needs of children with Hunter and Sanfilippo syndromes who need hospital treatment.
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- Learning Disability Practice, 2017, v. 20, n. 2, p. 17, doi. 10.7748/ldp.2017.e1790
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- Publication type:
- Article
Early childhood onset of high-grade atrioventricular block in Hunter syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
ARDS as a complication of difficult airway management in a patient with Hunter syndrome.
- Published in:
- 2000
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- Publication type:
- Case Study
The diagnosis and management of mucopolysaccharidosis type II.
- Published in:
- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01769-9
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- Publication type:
- Article
Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report.
- Published in:
- 2018
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- Publication type:
- journal article
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
- Published in:
- Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2989, doi. 10.3892/etm.2017.4303
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- Publication type:
- Article
Clinical Advances in Human Gene Therapies.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical utility gene card for: Mucopolysaccharidosis type II.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.143
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- Publication type:
- Article
Magnetic Resonance Imaging and Ocular Ultrasound Findings in Mucopolysaccharidosis Type 2.
- Published in:
- 2014
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- Publication type:
- Image
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172435
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- Publication type:
- Article
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164765
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- Publication type:
- Article
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163964
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- Publication type:
- Article
A RARE CASE OF HUNTER SYNDROME -CASE REPORT.
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- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2015, v. 64, n. 1, p. 38, doi. 10.37897/rjp.2015.1.8
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- Publication type:
- Article
Hunter'S Syndrome and Pebbling of Skin: A Case Report with a Rare Genetic Mutation.
- Published in:
- 2024
- By:
- Publication type:
- Case Study