Results 31 to 40 of about 32,710 (240)

A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management.

Intractable & Rare Diseases Research, 2020
Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases (LSD) with multi-organic and severe symptoms. MPS occur worldwide in various forms though have relative a low incidence.
Jing Zhou, Jing Lin, W. Leung, Ling Wang
semanticscholar   +1 more source

A case study of three patients with mucopolysaccharidoses in Hue Central Hospital

SAGE Open Medical Case Reports, 2020
Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various ...
Tran Kiem Hao, Nguyen Thi Diem Chi, Nguyen Thi Hong Duc, Nguyen Thi Kim Hoa   +3 more
doaj   +1 more source

Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis

罕见病研究, 2023
Mucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients′ lysosome induces the intracellular deposition of the mucopolysaccharides, and causes ocular and organ-related ...
SHI Meipan, SHI Caiping, DU Chixin
doaj   +1 more source

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]

, 2016
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I, Lund, Troy C, Miller, Weston P, Orchard, Paul J, Pasquali, Marzia, Polgreen, Lynda E, Raymond, Gerald V   +6 more
core   +1 more source

Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know

Diagnostics, 2022
Mucopolysaccharidosis (MPS) is a group of disorders caused by the reduced or absent activity of enzymes involved in the glycosaminoglycans (GAGs) degradation; the consequence is the progressive accumulation of the substrate (dermatan, heparan, keratan or
Stefania Costi, Roberto Felice Caporali, Achille Marino   +2 more
doaj   +1 more source

Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score

Journal of Clinical Medicine, 2021
(1) Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the absence of enzymes required for degradation of glycosaminoglycans (GAGs).
C. Gadepalli, K. Stepien, Reena Sharma, A. Jovanović, Govind Tol, A. Bentley   +5 more
semanticscholar   +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

Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery

Biomedicines, 2021
Lysosomal storage disorders (LSDs) represent a complex and heterogeneous group of rare genetic diseases due to mutations in genes coding for lysosomal enzymes, membrane proteins or transporters.
Laura Rigon, Concetta De Filippis, Barbara Napoli, Rosella Tomanin, Genny Orso   +4 more
doaj   +1 more source

A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I.

Molecular Therapy, 2020
Our previous study delivered zinc finger nucleases to treat mice with mucopolysaccharidosis type I (MPS I), resulting in a phase I/II clinical trial (ClinicalTrials.gov: NCT02702115).
Li Ou, M. Przybilla, Ozan Ahlat, Sarah Kim, P. Overn, Jeanine R. Jarnes, M. Gerard O’Sullivan, C. B. Whitley   +7 more
semanticscholar   +1 more source

Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]

, 2011
Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I, Ellinwood, N Matthew, Kakkis, Emil D, Lyons, Jeremiah A, McEntee, Michael F, Passage, Merry B, Wall, Jonathan S   +6 more
core   +3 more sources