Results 61 to 70 of about 9,431 (199)

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II [PDF]

Jornal de Pediatria, 2006
To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period.Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre.
Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani, Grupo de Estudos sobre MPS II   +6 more
openaire   +3 more sources

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, EarlyView.
Dupilumab, through IL‐4Rα blockade, shows promising efficacy beyond approved indications in paediatric diseases driven by T2 inflammation. Emerging evidence—mainly from small studies—supports improvements in disease severity and quality of life, highlighting its potential as a targeted, steroid‐sparing therapy while underscoring the need for ...
Simone Foti Randazzese, Anna Calamita, Diletta D'Angelo, Alessia Marseglia, Esther Mesa Lombardero, Sara Pedersoli, Micol Tedeschi, Mara De Amici, Sara Manti, Valeria Brazzelli, Amelia Licari, Gian Luigi Marseglia   +11 more
wiley   +1 more source

Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis: Acoustic reflection in mucopolysaccharidosis [PDF]

, 2011
International audienceBackground Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyse the calibre of the upper airways.
Louis, Bruno, Vialle, Raphael, Bénédicte Heron, Bruno Louis, Leboulanger, Nicolas, Fauroux, Brigitte, Heron, Benedicte, Nicolas Leboulanger, Brigitte Fauroux, Raphaël Vialle   +9 more
core   +1 more source

Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common.
Alaa Bella, Mumen Abdalazim Dafallah, Ashraf Yousif Fadlalla, Bothaina Faisal Elmardi, Yomna Mohialdin Alataya, Abdalla Abdelmahmoud Abdalla, Mohammed Almeldin Ahmed Ibrahim, Mawada Faisal Nugud, Salah Elamin Ahmed Babiker, Hiba faroug Al_amin, Safaa Ayoub Yousif Mohammed, Moawia Elbalal Mohammed   +11 more
wiley   +1 more source

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey [PDF]

, 2010
To use our experience with patients in the observational database HOS - the Hunter Outcome Survey - to evaluate the feasibility of home infusions of idursulfase for patients with mucopolysaccharidosis type II (MPS II)
Barbara K. Burton, Jones, SA, Burton, BK, GUFFON N, VAN DER PLOEG AT, Jane Roberts, van der Ploeg, Ans, SCARPA, MAURIZIO, BURTON BK, Guffon, N, Simon A. Jones, Feliciani, Claudio, ROBERTS J, Nathalie Guffon, Ans T. van der Ploeg, JONES SA, Roberts, J   +16 more
core   +1 more source

Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities [PDF]

, 2021
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation of glycosaminoglycans—heparan sulphate and dermatan sulphate—in almost ...
Paweł Zapolnik, Antoni Pyrkosz
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger   +8 more
doaj   +1 more source

Safety considerations of gene‐based therapies for Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Gene‐based therapies show increasing promise for the treatment of neurologic disease. In 2016, nusinersen, an RNA‐based therapy, was approved for children with spinal muscular atrophy (SMA). Over 200 clinical trials have utilized gene therapy approaches for a host of neurodegenerative and neuromuscular disorders, including Alzheimer's disease (
Elizabeth A. Bevins, Gabriel C. Léger, Michelle A. Herman, John M. Ringman, Subhojit Roy, Matthew Shtrahman, Judy Pa, Howard H. Feldman   +7 more
wiley   +1 more source

Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Almost all patients with mucopolysaccharidosis (MPS) develop respiratory dysfunction of varying severity during disease progression. While respiratory disease in MPS has traditionally been attributed to upper airway obstruction caused by glycosaminoglycan (GAG) accumulation in the trachea and bronchi, involvement of the intrapulmonary ...
Martin Donnelley, Ronan Smith, Patricia Cmielewski, Nicole Reyne, Piraveen Pirakalathanan, Nina Eikelis, Kris Nilsen, Jennie Louise, Kate Barratt, Jessica Logan, Ben Ung, David Parsons, Doug Brooks, Sandra Orgeig, Emma Parkinson‐Lawrence   +14 more
wiley   +1 more source