Works matching DE "MUCOPOLYSACCHARIDOSIS II"
Results: 113
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
Complex Communication Needs of a Child with Dandy-Walker Syndrome and Mucopolysaccharidosis Type II Case Study.
- Published in:
- 2021
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- Publication type:
- Case Study
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome).
- Published in:
- 2017
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- Publication type:
- journal 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
Síndrome de Hunter. Asesoramiento a parejas y familiares con riesgo.
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- MEDISAN, 2013, v. 17, n. 8, p. 4046
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- Article
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
- Published in:
- 2015
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- Publication type:
- Case Study
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
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
- Published in:
- 2017
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- Publication type:
- journal 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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- Article
Hunter's syndrome: A case report.
- Published in:
- 2015
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- Publication type:
- Case Study
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.
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- Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2989, doi. 10.3892/etm.2017.4303
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- Article
A Rare Case of Mucopolysaccharidosis: Hunter Syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study
Lysosomal storage disorders: Clinical, biochemical and molecular profile from rare disease centre, India.
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- Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 686, doi. 10.4103/aian.AIAN_1009_20
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- Article
Dental Findings and Management in a Mucopolysaccharidosis Type IIIB Patient.
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- Journal of Dentistry for Children, 2012, v. 79, n. 3, p. 176
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- 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
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.
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- Journal of Human Genetics, 2013, v. 58, n. 11, p. 728, doi. 10.1038/jhg.2013.92
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- Publication type:
- Article
Successful Idursulfase Desensitization Experience in a Pediatric Patient.
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- Asthma Allergy Immunology / Astim Allerji Immunoloji, 2022, v. 20, n. 1, p. 68, doi. 10.21911/aai.667
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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
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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- Article
Hunter'S Syndrome and Pebbling of Skin: A Case Report with a Rare Genetic Mutation.
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- 2024
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- Publication type:
- Case Study
Pebbled and patterned skin eruptions – A diagnostic clue to hunter syndrome.
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- 2023
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- Publication type:
- Case Study
Case report of endoprosthesis -Y implantation in severe respiratory failure in the MPSII patient; comparison with literature data.
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- 2020
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- Publication type:
- journal article
Prenatal diagnosis of mucopolysaccharidoses type II by two‐dimensional electrophoresis and mass spectrometry in amniotic fluid.
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- Journal of Obstetrics & Gynaecology Research, 2022, v. 48, n. 3, p. 682, doi. 10.1111/jog.15135
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- Publication type:
- Article
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign.
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- Journal of Pediatric Research, 2021, v. 8, n. 2, p. 206, doi. 10.4274/jpr.galenos.2020.82621
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- Publication type:
- Article
Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey.
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- Journal of Pediatric Research, 2018, v. 5, p. 34, doi. 10.4274/jpr.36025
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- Publication type:
- Article
Mucopolysaccharidosis II with neonatal respiratory distress syndrome and bronchopulmonary dysplasia.
- Published in:
- 2023
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- Publication type:
- Case Study
Clinical assessment of upper airway and its complications in Hunter syndrome.
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- Pediatrics International, 2021, v. 63, n. 5, p. 543, doi. 10.1111/ped.14467
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- Publication type:
- Article
Clinical Advances in Human Gene Therapies.
- Published in:
- 2018
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- Publication type:
- journal 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
Relationship of sleep to pulmonary function in mucopolysaccharidosis II.
- Published in:
- 2013
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- Publication type:
- Opinion
Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature.
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- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 2, p. 62
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- Publication type:
- Article
Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).
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- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 1, p. 15
- Publication type:
- Article
Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.
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- Journal of Patient-Reported Outcomes, 2019, v. 3, n. 1, p. N.PAG, doi. 10.1186/s41687-019-0140-3
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- Publication type:
- Article
COVID-19 in a 16-Year-Old Adolescent With Mucopolysaccharidosis Type II: Case Report and Review of Literature.
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- Pediatric Infection & Vaccine, 2022, v. 29, n. 2, p. 70, doi. 10.14776/piv.2022.29.e7
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- Publication type:
- Article
Management of the behavioural manifestations of Hunter syndrome.
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- British Journal of Nursing, 2016, v. 25, n. 1, p. 22, doi. 10.12968/bjon.2016.25.1.22
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- Publication type:
- Article
Early childhood onset of high-grade atrioventricular block in Hunter syndrome.
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- 2018
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- Publication type:
- journal article
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.
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- Clinical Genetics, 2017, v. 91, n. 5, p. 787, doi. 10.1111/cge.12927
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- Publication type:
- Article
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
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- Clinical Genetics, 2016, v. 89, n. 5, p. 574, doi. 10.1111/cge.12738
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- Publication type:
- Article
Corrigendum.
- Published in:
- 2012
- Publication type:
- Erratum
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
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- Clinical Genetics, 2012, v. 81, n. 2, p. 185, doi. 10.1111/j.1399-0004.2011.01641.x
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- Publication type:
- Article
Clinical utility gene card for: Mucopolysaccharidosis type II.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. -1, doi. 10.1038/ejhg.2011.143
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- Article
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.
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- Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 53, doi. 10.1186/1824-7288-39-53
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- Article
Red flags for genetic disorders.
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- Contemporary Pediatrics, 2018, v. 35, n. 10, p. 22
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- Publication type:
- 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
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Audiological Profiling and Rehabilitation Outcomes in a Child with Mucopolysaccharidosis Type II.
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- Auditory & Vestibular Research (2423-480X), 2024, v. 33, n. 2, p. 172, doi. 10.18502/avr.v33i2.14820
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- Publication type:
- Article
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
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
Multidisciplinary Team for Genetic Disorders - Integration with Clinicians and Health-care Professionals.
- Published in:
- Apollo Medicine, 2023, v. 20, n. 2, p. 144, doi. 10.4103/am.am_82_23
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- Publication type:
- Article