Results 51 to 60 of about 21,161 (167)

Mucopolysaccharidoses and the blood–brain barrier

Fluids and Barriers of the CNS, 2022
Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight clinically distinct types of mucopolysaccharidosis, some with various subtypes, based on ...
Onur Sahin, Hannah P. Thompson, Grant W. Goodman, Jun Li, Akihiko Urayama   +4 more
doaj   +1 more source

Identifying High‐Risk Children Safe for Same‐Day Discharge After Tonsillectomy

The Laryngoscope, Volume 136, Issue 10, Page 4497-4504, October 2026.
ABSTRACT Objective Current guidelines recommend overnight admission for children with severe obstructive sleep apnea (OSA) and obesity undergoing tonsillectomy, although most have uneventful postoperative courses. We aimed to identify low‐risk subgroups within this high‐risk population who may be candidates for same‐day discharge. Methods Retrospective
Amy Ho, Yann‐Fuu Kou, Christopher Liu, Cynthia S. Wang, Felicity Lenes‐Voit, Stephen R. Chorney, Kenneth Lee, Seckin Ulualp, Ron B. Mitchell, Romaine F. Johnson   +9 more
wiley   +1 more source

Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

JIMD Reports, 2020
Background Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease.
Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler‐Ipsiroglu   +3 more
doaj   +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

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

Lysosomal Dysfunction Is Associated With Intervertebral Disc Degeneration: Multiomics and Machine Learning Identify Molecular Subtypes and Hub Genes

The Journal of Gene Medicine, Volume 28, Issue 9, September 2026.
Intervertebral disc degeneration (IVDD) is linked to lysosomal dysfunction, impaired autophagic degradation, and cellular senescence. Integrating bulk and single‐cell transcriptomics with machine learning, this study identified two lysosome‐related molecular subtypes and four hub genes: HYAL1, MMD, PLD3, and ANK3.
Yang Yang, Hong Li, Yixuan Ou, Yaping Yu, Kaiqiang Sun, Shixing Chen, Chenglong Ji   +6 more
wiley   +1 more source

Mucopolysaccharidosis Type 3B in an Adult with Pancytopenia: A Rare Case Report

, 2014
Mucopolysaccharidoses are rare hereditary lysosomal storage diseases developing due to dysfunction or deficiencies in enzymes that metabolize long-chain carbohydrates and glycosaminoglycans.
Nihal Güzelay, Alparslan Merdin, Fatma Avcı Merdin, Mustafa Karaca   +3 more
core   +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

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 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