Results 51 to 60 of about 15,739 (180)

The Impact of Hydrotherapy on Health‐Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility Study

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Enzyme Replacement Therapy (ERT) is the clinical standard for Mucopolysaccharidosis II (MPSII), yet its limited penetration into poorly vascularised tissues such as bone, cartilage and heart valves leaves participants with significant musculoskeletal morbidity.
Andrew Oldham, Nicole Stockton, Mark Warburton, Calvin Heal, Marie Meehan, Karolina M. Stepien, on behalf of the MPS Society   +6 more
wiley   +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

Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy

Molecular Therapy: Methods & Clinical Development
Hematopoietic stem cell gene therapy (HSCGT) is a promising therapeutic strategy for the treatment of neurodegenerative, metabolic disorders. The approach involves the ex vivo introduction of a missing gene into patients’ own stem cells via lentiviral ...
Stuart Ellison, Karen Buckland, Yuko Learmonth, Victoria Day, Spandan Kalra, Lauren Howe, Francisco José Roman-Rodriguez, Jose Bonafont, Laura Booth, Rebecca Holley, Jon Smythe, Simon Jones, Adrian Thrasher, Claire Booth, Brian W. Bigger   +14 more
doaj   +1 more source

Alpha‐Mannosidosis in a 3.5‐Year‐Old Girl: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Alpha‐mannosidosis is a rare lysosomal storage disease caused by a deficiency of the enzyme alpha‐mannosidase. It manifests as a continuous spectrum of signs and symptoms characterized by dysmorphic features, skeletal abnormalities, delayed psychomotor and speech development, impaired hearing, and psychiatric involvement. When suspected, alpha‐
Samuel Bonilla Fornes, Maria Pilar Mendez Perez, Marta Torres Diaz, Maria Eugenia Sanchez Gutierrez, Enrique Galán Gómez   +4 more
wiley   +1 more source

Calculation of continuous reference intervals for biological parameters exhibiting strong age‐dependent level changes: Its application to glycosaminoglycans and sialic acid in urine

JIMD Reports
Glycosaminoglycan (GAG) and sialic acid (total and free) assays are used as first‐line screening tests for the diagnosis of mucopolysaccharidoses and glycoproteinoses, respectively.
Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist   +5 more
doaj   +1 more source

Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: To report anterior segment evaluation in patients with mucopolysaccharidosis 1 using anterior segment optical coherence tomography and in vivo confocal microscopy.
Ayumi Matoba, Yoshinori Oie, Honami Tanibuchi, Andrew Winegarner, Kohji Nishida   +4 more
doaj   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +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

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