Results 61 to 70 of about 7,143 (200)

Mucopolysaccharidosis VI in cats - clarification regarding genetic testing [PDF]

, 2016
Debate. Published online: 02 July 2016.The release of new DNA-based diagnostic tools has increased tremendously in companion animals. Over 70 different DNA variants are now known for the cat, including DNA variants in disease-associated genes and genes ...
Beccaglia, M., Genova, F., Grahn, R., Hopwood, J., Longeri, M., Lyons, L.   +5 more
core   +5 more sources

Mucopolysaccharidoses [PDF]

, 2019
Abstract Chapter 84 discusses mucopolysaccharidoses, which are genetic, lysosomal storage diseases resulting in the accumulation of glycosaminoglycans (GAG) in the soft tissues. Musculoskeletal complications of mucopolysaccharidosis (MPS) are common beginning in childhood.
openaire   +2 more sources

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Beyond diabetes and obesity: GLP‐1 receptor agonists in disrupting the vicious cycle of metabolic dysfunction and neuroinflammation

Diabetes, Obesity and Metabolism, Volume 28, Issue 3, Page 1622-1637, March 2026.
Abstract Neurodegenerative diseases, including debilitating conditions like Alzheimer's and Parkinson's, are characterized by progressive neuronal loss, a process fundamentally driven by persistent chronic neuroinflammation and central metabolic dysfunction.
Renata Spezani, Carlos A. Mandarim‐de‐Lacerda   +1 more
wiley   +1 more source

Nonsteroidal anti-inflammatory drugs modulate cellular glycosaminoglycan synthesis by affecting EGFR and PI3K signaling pathways [PDF]

, 2017
In this report, selected non-steroidal anti-inflammatory drugs (NSAIDs), indomethacin and nimesulide, and analgesics acetaminophen, alone, as well as in combination with isoflavone genistein as potential glycosaminoglycan (GAG) metabolism modulators ...
Banecki, Bogdan, Bocheńska, Katarzyna, Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Moskot, Marta, Mozolewski, Paweł, Węgrzyn, Grzegorz   +6 more
core   +2 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome [PDF]

, 2015
Background: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood–brain ...
Aarsen, F.K. (Femke), Brands, M.M.G. (Marion M. G.), Coebergh van den Braak, R.R.J. (Robert), Ebbink, B.J. (Johanneke), Hout, J.M.P. (Johanna) van den, Leguin, M. (Maarten), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), van de Weitgraven, R.L. (Rianne L.)   +8 more
core   +1 more source

Clinicopathological Challenge: A Progressively Enlarging Hardened Skin Plaque

International Journal of Dermatology, Volume 65, Issue 1, Page 15-17, January 2026.
ABSTRACT Stiff skin syndrome (SSS) is a rare connective tissue disease manifesting as a progressive, non‐inflammatory fibrosis that causes the skin and soft tissues to harden. It can result in restricted joint movement, particularly affecting the shoulder and pelvic girdle. A segmental variant with a better prognosis has been described.
Marian Fernández Martínez, Frida Paola Rivera Lira, Rodrigo Roldán‐Marín, Sonia Toussaint‐Caire   +3 more
wiley   +1 more source

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy

Cells, 2020
Cathepsins (CTSs) are ubiquitously expressed proteases normally found in the endolysosomal compartment where they mediate protein degradation and turnover.
Valeria De Pasquale, Anna Moles, Luigi Michele Pavone   +2 more
doaj   +1 more source

From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly–Arthropathy–Coxa Vara–Pericarditis Syndrome—A Case‐Based Review

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by PRG4 mutations that impair lubricin production. Resulting noninflammatory hyperplasia produces congenital or early‐onset camptodactyly and noninflammatory arthropathy, affecting large joints.
Ana Luiza Garcia Cunha, Isabela Tavares Barretos Matias, Matheus Santos França, Joziele de Souza Lima, Andrea Scaramuzza   +4 more
wiley   +1 more source