Results 81 to 90 of about 21,517,347 (239)

Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management [PDF]

, 2013
Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
Mary C. Theroux, Michael Beck, Renée Shediac, Theroux, Mary C, Lampe, Christian G, William G. Mackenzie, White, Klane K, Christina Lampe, Martin, Kenneth W, Christian J. Hendriksz, Beck, Michael, Harmatz, Paul R, Christian G. Lampe, Lampe, Christina, Mackenzie, William G, Hendriksz, Christian J, Paul R. Harmatz, Solanki, Guirish A, Klane K. White, Guirish A. Solanki, Shediac, Renée, Kenneth W. Martin   +21 more
core   +1 more source

Natural history of Morquio A patient with tracheal obstruction from birth to death

Molecular Genetics and Metabolism Reports, 2017
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan ...
C. Doherty, L. Averill, M. Theroux, W. Mackenzie, C. Pizarro, R. Mason, S. Tomatsu   +6 more
semanticscholar   +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, Volume 65, Issue 6, Page 442-449, November 2024.
Abstract Glycosaminoglycan (GAG) and sialic acid (total and free) assays are used as first‐line screening tests for the diagnosis of mucopolysaccharidoses and glycoproteinoses, respectively. There is a pronounced age‐dependent variation in the urinary concentrations of these metabolites in the normal population, and the stratification of the reference ...
Carlos Emilio Rodríguez, Mette Diswall, Anders Olsson, Torleif Jonsson, Eva Johansson, Maria Blomqvist   +5 more
wiley   +1 more source

Fluorescent Reporters, Imaging, and Artificial Intelligence Toolkits to Monitor and Quantify Autophagy, Heterophagy, and Lysosomal Trafficking Fluxes

Traffic, Volume 25, Issue 10, October 2024.
Our review reports on qualitative, quantitative, and chronological monitoring of lysosomal protein trafficking, and of autophagic and heterophagic fluxes to acidic, degradative endolysosomes. We provide an up‐to‐date description of available single‐ and tandem‐fluorescent reporters, mono‐ and multi‐modal microscopy techniques, and artificial ...
Mikhail Rudinskiy, Diego Morone, Maurizio Molinari   +2 more
wiley   +1 more source

Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study.

Clinical Therapeutics, 2017
PURPOSE Elosulfase alfa is an enzyme replacement therapy for the treatment of Morquio A syndrome (mucopolysaccharidosis IVA), a lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactose-amine-6-sulfatase.
B. Long, T. Tompkins, C. Decker, Lynne A. Jesaitis, S. Khan, P. Slasor, P. Harmatz, Charles A. O’Neill, B. Schweighardt   +8 more
semanticscholar   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Pain management challenges in a patient with mucopolysaccharidosis IVA

Clinical Case Reports, Volume 12, Issue 8, August 2024.
Key Clinical Message It is important to consider all potential pain management modalities including alternative treatment on managing complex pain presentations. Acupuncture is a treatment modality that may result in reduction of pain in patients with significant medical comorbidities due to MPS IVA.
Marcus Gurgius, Sarah Donoghue, Robyn A. Wallace   +2 more
wiley   +1 more source

Complicaciones de las incisiones quirúrgicas

Cirugía del Uruguay, 2020
Presentado en sesión de 18 de agosto de ...
A. Fernández Chapella, A. Morquio, J M Alonso   +2 more
doaj  

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study

JIMD Reports, Volume 65, Issue 2, Page 63-84, March 2024.
Abstract Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens.
Nahya Awada, Martin Holcik
wiley   +1 more source

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Journal of Lipid Research, 2007
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu   +4 more
doaj   +1 more source