Works matching DE "MUCOPOLYSACCHARIDOSIS IV"
Results: 44
Hip morphology in mucopolysaccharidosis type IVA through radiograph, magnetic resonance imaging and arthrogram assessment.
- Published in:
- 2020
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- Publication type:
- journal article
Morquio's Syndrome and Craniocervical Instability.
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- Pediatric Neurosurgery, 2012, v. 47, n. 3, p. 238, doi. 10.1159/000334310
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- Publication type:
- Article
Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
The Minimally Invasive Bipolar Fixation for Pediatric Spinal Deformities: A Narrative Review.
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- Children, 2024, v. 11, n. 2, p. 228, doi. 10.3390/children11020228
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- Article
Management of Morquio Syndrome in a Repeat Caesarean Section.
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- International Student Journal of Nurse Anesthesia, 2017, v. 16, n. 2, p. 28
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- Article
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome.
- Published in:
- 2019
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- Publication type:
- journal article
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
- Published in:
- 2020
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- Publication type:
- journal article
Airway Management of the Deformed Trachea Using T-Tube Stents in Patients with Mucopolysaccharidosis Type IVA.
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- Annals of Otology, Rhinology & Laryngology, 2022, v. 131, n. 5, p. 562, doi. 10.1177/00034894211032778
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- Publication type:
- Article
Deletion of Exon 4 in the N-Acetylgalactosamine-4-Sulfatase Gene in a Taiwanese Patient with Mucopolysaccharidosis Type VI.
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- Tohoku Journal of Experimental Medicine, 2015, v. 235, n. 4, p. 267, doi. 10.1620/tjem.235.267
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- Publication type:
- Article
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
Atlantoaxial instability as the presenting feature of Morquio syndrome.
- Published in:
- 2014
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- Publication type:
- Case Study
Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).
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- Journal of Orthopaedic Research, 2013, v. 31, n. 4, p. 621, doi. 10.1002/jor.22281
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- Publication type:
- Article
Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene.
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- Balkan Medical Journal, 2022, v. 39, n. 3, p. 220, doi. 10.4274/balkanmedj.galenos.2022.2022-1-72
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- Publication type:
- Article
Widespread Vasculopathy in a Patient with Morquio A Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
- Published in:
- Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0498-y
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- Publication type:
- Article
Morquio’s Syndrome: A Case Report of Two Siblings.
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- Case Reports in Dentistry, 2017, p. 1, doi. 10.1155/2017/6176372
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- Publication type:
- Article
Squashed dreams and rare breeds: ableism and the arbiters of life and death.
- Published in:
- 2015
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- Publication type:
- Journal 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
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.
- Published in:
- 2017
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- Publication type:
- journal article
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome.
- Published in:
- 2020
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- Publication type:
- journal article
The value of physiatrists in pediatric intensive care unit: A case report of botulinum toxin injection into masseter muscle for the treatment of trismus.
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- Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2020, v. 66, n. 4, p. 495, doi. 10.5606/tftrd.2021.5452
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- Publication type:
- Article
The value of physiatrists in pediatric intensive care unit: A case report of botulinum toxin injection into masseter muscle for the treatment of trismus.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
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- Application of Clinical Genetics, 2018, v. 11, p. 45, doi. 10.2147/TACG.S141881
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- Publication type:
- 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
Dwarf with dual spinal kyphotic deformity at the cervical and dorsal spine unassociated with odontoid hypoplasia: Surgical management.
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- Journal of Pediatric Neurosciences, 2016, v. 11, n. 3, p. 237, doi. 10.4103/1817-1745.193370
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- Publication type:
- Article
Genetics.
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- Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 137
- Publication type:
- Article
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.
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- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 1, p. 22
- Publication type:
- Article
Occipitocervical stabilization using bilateral laminar C2 screws in children with mucopolysaccharidosis IVA.
- Published in:
- 2015
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- Publication type:
- journal article
I-gel assisted fiberoptic intubation in a child with Morquio's syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
In This Issue.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 5, p. 880, doi. 10.1038/mt.2012.74
- Publication type:
- Article
A 9-Month-Old with Skeletal Abnormalities and a Consanguineous Sibling with Mucopolysaccharidosis IVA: The Role of Urinary Glycosaminoglycan Testing in Disease Diagnosis and Treatment Monitoring.
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- Clinical Medicine Insights: Case Reports, 2021, v. 14, p. 1, doi. 10.1177/1179547621999409
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- Publication type:
- Article
DIAGNOSTYKA I POSTĘPOWANIE TERAPEUTYCZNE U DZIECI Z MUKOPOLISACHARYDOZĄ TYPU VI.
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- Przeglad Pediatryczny, 2012, v. 42, n. 3, p. 149
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- Publication type:
- Article
CLINICAL NEWS.
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- British Journal of Hospital Medicine (17508460), 2014, v. 75, n. 6, p. 309, doi. 10.12968/hmed.2014.75.6.308
- Publication type:
- 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
Enzyme replacement therapy: efficacy and limitations.
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- 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
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
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
Anaesthetic management of patients with mucopolysaccharidosis IV presenting for major orthopaedic surgery.
- Published in:
- 1999
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- Publication type:
- journal article
Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.
- Published in:
- 2021
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- Publication type:
- journal article
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study.
- Published in:
- 2020
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- Publication type:
- journal 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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- Publication type:
- Article
Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience.
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- Journal of Pediatric Research, 2018, v. 5, p. 28, doi. 10.4274/jpr.52244
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- Publication type:
- Article
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-21
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- Publication type:
- Article