Works matching Mucopolysaccharidosis
Results: 2549
Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.
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- 2017
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- Publication type:
- journal article
Newborn screening in mucopolysaccharidoses.
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- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0552-3
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- Publication type:
- Article
Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.
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- 2016
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- Publication type:
- journal article
Achados oculares em pacientes com mucopolissacaridoses.
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- Arquivos Brasileiros de Oftalmologia, 2011, v. 74, n. 6, p. 430, doi. 10.1590/S0004-27492011000600010
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- Publication type:
- Article
Características clínicas, diagnósticas y terapéuticas de la mucopolisacaridosis.
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- Universidad Médica Pinareña, 2023, v. 19, p. 1, doi. 10.5281/zenodo.7897452
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- Article
Mucopolysaccharidosis VI: the Italian experience.
- Published in:
- 2009
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- Publication type:
- journal article
Therapy for the mucopolysaccharidoses.
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- Rheumatology, 2011, v. 50, n. suppl_5, p. v49, doi. 10.1093/rheumatology/ker396
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- Publication type:
- Article
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.
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- Clinical Oral Investigations, 2018, v. 22, n. 1, p. 201, doi. 10.1007/s00784-017-2100-8
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- Article
Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.
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- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3275, doi. 10.3390/jcm10153275
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- Publication type:
- Article
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.
- Published in:
- 2018
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- Publication type:
- journal article
Current and potential therapeutic strategies for mucopolysaccharidoses.
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- Journal of Clinical Pharmacy & Therapeutics, 2014, v. 39, n. 3, p. 215, doi. 10.1111/jcpt.12136
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- Article
Heterotopic ossification following use of i-Factor for spinal fusion in Mucopolysaccharidosis 1: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Alterations in speech and voice in patients with mucopolysaccharidoses.
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- Logopedics Phoniatrics Vocology, 2014, v. 39, n. 1, p. 30, doi. 10.3109/14015439.2013.776630
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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
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
- Published in:
- 2022
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- Publication type:
- journal article
Anthropometric characteristics of four Polish children with mucopolysaccharidosis.
- Published in:
- 2013
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- Publication type:
- Case Study
Morphological abnormalities in the white blood cells of a baby with type VI mucopolysaccharidosis.
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- Annales de Biologie Clinique, 2024, v. 82, n. 5, p. 589, doi. 10.1684/abc.2024.1915
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- Publication type:
- Article
Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses.
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- Journal of Laryngology & Otology, 2016, v. 130, n. 2, p. 194, doi. 10.1017/S0022215115003357
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- Publication type:
- Article
Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12693, doi. 10.3390/ijms232012693
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- Article
Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4785, doi. 10.3390/ijms23094785
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- Publication type:
- Article
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 10938, doi. 10.3390/ijms222010938
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- Article
Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5490, doi. 10.3390/ijms22115490
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- Article
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1258, doi. 10.3390/ijms21041258
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- Article
Anesthesia management in a child with mucopolysaccharidosis and toxic epidermal necrolysis: A case report.
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- Pediatric Anesthesia, 2024, v. 34, n. 1, p. 89, doi. 10.1111/pan.14746
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- Article
Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration.
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- Journal of Molecular Medicine, 2017, v. 95, n. 10, p. 1043, doi. 10.1007/s00109-017-1562-0
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- Publication type:
- Article
Mukopolysacharidózy z pohledu otorinolaryngologa.
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- Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2018, v. 67, n. 3, p. 62
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- Article
Role of elosulfase alfa in mucopolysaccharidosis IVA.
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- Application of Clinical Genetics, 2016, v. 9, p. 67, doi. 10.2147/TACG.S69080
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- Publication type:
- Article
A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI -- a case report.
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- Journal of Medicine & Life, 2022, v. 15, n. 4, p. 579, doi. 10.25122/jml-2021-0288
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- Article
An Uncommon Presentation of Mucopolysaccharidosis Type IIIb.
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- Iranian Journal of Child Neurology, 2019, v. 13, n. 3, p. 105
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- Article
Síndrome de Hurler-Scheie: mucopolisacaridosis tipo I.
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- 2015
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- Publication type:
- Case Study
Avaliação do consumo alimentar de pacientes com mucopolissacaridose.
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- Scientia Medica, 2014, v. 24, n. 1, p. 19, doi. 10.15448/1980-6108.2014.1.14485
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- Article
Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).
- Published in:
- 2016
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- Publication type:
- journal article
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
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- 2018
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- Publication type:
- journal article
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
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- 2017
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- Publication type:
- journal article
Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children.
- Published in:
- 2016
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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
New treatments for the mucopolysaccharidoses: from pathophysiology to therapy.
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- 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
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.
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- 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
The role of imaging in the skeletal involvement of mucopolysaccharidoses.
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- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0556-z
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- Publication type:
- Article
ENT and mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0555-0
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- Publication type:
- Article
Anesthesiological risks in mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0554-1
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- Publication type:
- Article
Mucopolysaccharidoses: early diagnostic signs in infants and children.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0550-5
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- Publication type:
- Article
Heparin Co-factor II Thrombin Complex as a Biomarker for Mucopolysaccharidosis: Indian Experience.
- Published in:
- Indian Pediatrics, 2014, v. 51, n. 2, p. 128, doi. 10.1007/s13312-014-0344-9
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- Publication type:
- Article
"Mucopolysaccharidosis syndrome in a 9-Year-old boy: oral-dental management and diagnostic considerations": a case report.
- Published in:
- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04859-6
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- Publication type:
- Article
Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-0972-y
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- Publication type:
- Article
A Clinical Multicenter Study of Orofacial Features in 26 Brazilian Patients With Different Types of Mucopolysaccharidosis.
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- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 3, p. 352, doi. 10.1597/13-204
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- Publication type:
- Article
Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery.
- Published in:
- 1999
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- Publication type:
- journal article
Mucopolysaccharidoses type IV A (Morquio syndrome): A case series of three siblings.
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- Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2012, v. 30, n. 1, p. 66, doi. 10.4103/0970-4388.95586
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- Publication type:
- Article