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Bilateral carpal tunnel syndrome in mucopolysaccharidosis type II: a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Use of Neuraxial Blockade in Cases of Anticipated Difficult Airway in Pediatric Patients -- A Safer Option.
- Published in:
- Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023, v. 16, p. S140, doi. 10.4103/mjdrdypu.mjdrdypu_61_22
- By:
- Publication type:
- Article
Dental Profile of Brazilian Patients with Rare Skeletal Genetic Disorders: Clinical Features and Associated Factors.
- Published in:
- Healthcare (2227-9032), 2024, v. 12, n. 10, p. 1046, doi. 10.3390/healthcare12101046
- By:
- Publication type:
- Article
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (<italic>valanafusp alpha</italic>): an open label phase 1-2 trial
- Published in:
- 2018
- By:
- Publication type:
- journal article
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Spine radiograph in dysplasias: A pictorial essay.
- Published in:
- Indian Journal of Radiology & Imaging, 2020, v. 30, n. 4, p. 436, doi. 10.4103/ijri.IJRI_395_20
- By:
- Publication type:
- Article
Mucopolysaccharidosis type I with craniosynostosis.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Epidemiology.
- Published in:
- 2012
- Publication type:
- Abstract
Prognosis.
- Published in:
- 2012
- Publication type:
- Abstract
Epidemiology.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 59
- Publication type:
- Article
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.
- Published in:
- 2012
- Publication type:
- Opinion
Clear cells in the atrioventricular valves of infants with severe human mucopolysaccharidosis (Hurler syndrome) are activated valvular interstitial cells.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 1, p. 16
- Publication type:
- Article
Normalization and Improvement of CNS Deficits in Mice With Hurler Syndrome After Long-term Peripheral Delivery of BBB-targeted Iduronidase.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 12, p. 2028, doi. 10.1038/mt.2014.152
- By:
- Publication type:
- Article
Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 12, p. 2018, doi. 10.1038/mt.2014.135
- By:
- Publication type:
- Article
Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1128850
- By:
- Publication type:
- Article
Encapsulated engineered myoblasts can cure Hurler syndrome: preclinical experiments in the mouse model.
- Published in:
- Gene Therapy, 2012, v. 19, n. 4, p. 355, doi. 10.1038/gt.2011.94
- By:
- Publication type:
- Article
Mps1 kinase-dependent Sgo2 centromere localisation mediates cohesin protection in mouse oocyte meiosis I.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00774-3
- By:
- Publication type:
- Article
Novel splice site <italic>IDUA</italic> gene mutation in Tunisian pedigrees with hurler syndrome.
- Published in:
- Diagnostic Pathology, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13000-018-0710-3
- By:
- Publication type:
- Article
Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain‐Targeted Therapy.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1182, doi. 10.1002/ana.26786
- By:
- Publication type:
- Article
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4521, doi. 10.3390/ijms24054521
- By:
- Publication type:
- Article
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0697-3
- By:
- Publication type:
- Article
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0319-x
- By:
- Publication type:
- Article
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Substrate Deprivation Therapy to Reduce Glycosaminoglycan Synthesis Improves Aspects of Neurological and Skeletal Pathology in MPS I Mice.
- Published in:
- Diseases, 2017, v. 5, n. 1, p. 5, doi. 10.3390/diseases5010005
- By:
- Publication type:
- Article
Heterotopic ossification following use of i-Factor for spinal fusion in Mucopolysaccharidosis 1: a case report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1293, doi. 10.3390/genes13081293
- By:
- 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.
- Published in:
- Clinical Medicine Insights: Case Reports, 2021, p. 1, doi. 10.1177/1179547621999409
- By:
- Publication type:
- Article
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 5, p. 494, doi. 10.1111/aos.13627
- By:
- Publication type:
- Article
Structural changes of the cornea in a patient with mucopolysaccharidosis (Hurler‐ Scheie) in confocal microscopy images.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, p. 0, doi. 10.1111/j.1755-3768.2012.S001.x
- By:
- Publication type:
- Article
Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler).
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 3, p. 287, doi. 10.1111/j.1755-3768.2010.01934.x
- By:
- Publication type:
- Article
Hurler's syndrome with cor pulmonale secondary to obstructive sleep apnoea treated by continuous positive airway pressure.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Mucopolysaccharidosis type I and craniosynostosis.
- Published in:
- Acta Neurochirurgica, 2013, v. 155, n. 10, p. 1973, doi. 10.1007/s00701-013-1831-9
- By:
- Publication type:
- Article
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.
- Published in:
- Cells Tissues Organs, 2012, v. 195, n. 4, p. 323, doi. 10.1159/000327532
- By:
- Publication type:
- Article
244. AAV Vector-Mediated Gene Therapy of Mucopolysaccharidosis Type I
- Published in:
- 2005
- By:
- Publication type:
- Abstract
ISAnalytics enables longitudinal and high-throughput clonal tracking studies in hematopoietic stem cell gene therapy applications.
- Published in:
- Briefings in Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1093/bib/bbac551
- By:
- Publication type:
- Article
Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis.
- Published in:
- Cleft Palate Craniofacial Journal, 2019, v. 56, n. 3, p. 395, doi. 10.1177/1055665618777906
- By:
- Publication type:
- Article
Successful Desensitization in a Patient with Hypersensitivity Reaction to Laronidase.
- Published in:
- Pediatric Allergy, Immunology & Pulmonology, 2017, v. 30, n. 1, p. 64, doi. 10.1089/ped.2016.0706
- By:
- Publication type:
- Article
Successful epidural anesthesia in a patient of Hurler syndrome for hernia repair.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Worldwide distribution of common IDUA pathogenic variants.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 1, p. 95, doi. 10.1111/cge.13224
- By:
- Publication type:
- Article
p. L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 4, p. 376, doi. 10.1111/cge.12507
- By:
- Publication type:
- Article
Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I.
- Published in:
- Pharmaceutical Research, 2015, v. 32, n. 3, p. 941, doi. 10.1007/s11095-014-1508-y
- By:
- Publication type:
- Article
Eyeing the spots and the spot in the eye: GM1 gangliosidosis.
- Published in:
- Journal of Pediatric Neurosciences, 2022, v. 17, n. 1, p. 85, doi. 10.4103/jpn.JPN_173_20
- By:
- Publication type:
- Article
IgE-Mediated Hypersensitivity and Desensitisation with Recombinant Enzymes in Pompe Disease and Type I and Type VI Mucopolysaccharidosis.
- Published in:
- International Archives of Allergy & Immunology, 2016, v. 169, n. 3, p. 198, doi. 10.1159/000446154
- By:
- Publication type:
- Article
Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2015, v. 124, n. 3, p. 198, doi. 10.1177/0003489414550154
- By:
- Publication type:
- Article
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0561-2
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Successful treatment of corneal hypertrophic scar in Hurler syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Case Study