Results 61 to 70 of about 21,613 (172)

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)

Orphanet Journal of Rare Diseases, 2020
Objective Thoracolumbar kyphosis is a common indication for spinal surgery in children with Mucopolysaccharidosis. Functional outcome of spinal surgical intervention has never been published in patients with this rare disease.
Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman, Neil Oxborrow   +4 more
doaj   +1 more source

Emerging Paediatric Uses of Dupilumab Beyond Approvals

Clinical &Experimental Allergy, Volume 56, Issue 10, Page 1162-1176, October 2026.
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

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

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

alpha-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I

, 2002
Mucopolysaccharidosis I (McKusick 25280, Hurler syndrome, Scheie syndrome) is caused by a deficiency in the lysosomal hydrolase, α-L-iduronidase (EC 3.2.1.76) and results in a failure to degrade the glycosaminoglycans, dermatan sulfate and heparan ...
Brooks, D.
core   +1 more source

Underlying data for Prevalence Rates of Mucopolysaccharidosis in Iraq: a retrospective cross-sectional observational study

, 2023
Underlying data for Prevalence Rates of Mucopolysaccharidosis in Iraq: a retrospective cross-sectional observational ...
Furqan M. Abdulelah
core   +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

Synaptic Proteostasis in Health and Disease

Journal of Neurochemistry, Volume 170, Issue 10, October 2026.
The localised creation and degradation of proteins at the pre and postsynaptic terminal are processes that are crucial for neuronal homeostasis. Synaptic proteostasis pathways are frequently reported as dysregulated in neurodevelopmental and neurodegenerative disorders.
Paul G. Donlin‐Asp, Emma L. Clayton
wiley   +1 more source

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

, 2014
To assess oral manifestations of 17 patients with mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy ...
Uttarilli, Anusha, Tanpaiboon, Pranoot, DALAL, Ashwin, Guven, Yeliz, Piranit Nik Kantaputra, KANTAPUTRA, Warissara, Hülya Kayserili, Pranoot Tanpaiboon, Ashwin Dalal, Balci, Mehmet Cihan, Warissara Kantaputra, Mehmet C. Balci, Anusha Uttarilli, KANTAPUTRA, Piranit Nik, Kayserili, Hulya, Yeliz Güven   +15 more
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source