Results 31 to 40 of about 1,965 (163)

Screening and treatments for the mucopolysaccharidoses

, 2023
Selva, Erica M.Tomatsu, ShunjiWith an incidence rate of approximately 1:25,000, the mucopolysaccharidoses (MPS) are a heterogenous family of genetic disorders that, when taken collectively, account for the most common type of lysosomal storage (LSD ...
Stapleton-Bradley, Molly
core   +1 more source

Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies [PDF]

, 2012
Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was ...
Banecka-Majkutewicz, Zyta, Węgrzyn, Alicja, Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Chmielarz, Izabela, Malinowska, Marcelina   +5 more
core   +2 more sources

Ameloblastoma in a Three-Year-Old Child with Hurler Syndrome (Mucopolysaccharidosis Type I)

Reports, 2022
Mucopolysaccharidoses (MPS) are a family of genetic diseases associated with a deficiency of alpha-L iduronidase, which causes a lack of catabolism of glycosaminoglycans (GAGs).
Mattia Di Bartolomeo, Arrigo Pellacani, Sara Negrello, Martina Buchignani, Riccardo Nocini, Gianluca Di Massa, Greta Gianotti, Giuseppe Pollastri, Giacomo Colletti, Luigi Chiarini, Alexandre Anesi   +10 more
doaj   +1 more source

Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints [PDF]

, 2020
Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of
Escolar, Maria L., Kearney, Shauna, Wang, Raymond Y., Clarke, Lorne, Saville, Benjamin R., Shapiro, Elsa G., Semrud-Clikeman, Margaret T., Rust, Stewart, van der Lee, Johanna H., Hogan, Melissa, Semrud-Clikeman, Margaret, Van der Lee, Johanna Hanneke, Giugliani, Roberto, Muschol, Nicole, Clarke, Lorne A., Eisengart, Julie B., Shapiro, Elsa, Escolar, Maria Luisa, Wang, Raymond, Morton, Jonathan, Harmatz, Paul, Adams, Heather R., Muenzer, Joseph   +22 more
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Diagnosis of the mucopolysaccharidoses [PDF]

Rheumatology, 2011
The mucopolysaccharidoses (MPSs) often present a diagnostic challenge, particularly for patients who have more slowly progressive disease phenotypes, as early disease manifestations can be subtle or non-specific. However, certain types of bone and joint involvement should always prompt consideration of an MPS diagnosis, such as early joint involvement ...
Thomas J A, Lehman, Nicole, Miller, Becky, Norquist, Lisa, Underhill, Joan, Keutzer   +4 more
openaire   +2 more sources

Overview of the mucopolysaccharidoses [PDF]

Rheumatology, 2011
The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple organ systems and reduced life expectancy. The MPSs are heterogeneous, progressive disorders.
openaire   +2 more sources

Glycan-based biomarkers for mucopolysaccharidoses. [PDF]

, 2014
The mucopolysaccharidoses (MPS) result from attenuation or loss of enzyme activities required for lysosomal degradation of the glycosaminoglycans, hyaluronan, heparan sulfate, chondroitin/dermatan sulfate, and keratan sulfate.
Esko, Jeffrey D, Lawrence, Roger, Brown, Jillian R, Lorey, Fred, Dickson, Patricia I, Crawford, Brett E   +5 more
core   +1 more source

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

Orphanet Journal of Rare Diseases, 2017
Background Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges to conducting
Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones   +12 more
doaj   +1 more source

Skeletal modifications in mucopolysaccharidoses: an overview

, 2012
The mucopolysaccharidoses (MPS) are a group of rare diseases characterized by deficiencies in different enzymes required for degradation of complex carbohydrates.
Graci, C., Panni, A.Schiavone, Giacomo, G.Di, Perisano, C., Spinelli, M.S., Venanzi, E., Maccauro, G., Leone, A., Scaramuzzo, L.   +8 more
core   +2 more sources

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

JIMD Reports, 2021
Background Mucopolysaccharidoses (MPS) is a group of hereditary multisystemic lysosomal disorders. Most neuroimaging studies in MPS have focused on the supratentorial compartment and craniocervical junction abnormalities, and data regarding posterior ...
Roberta Reichert, Juliano A. Pérez, Amauri Dalla‐Corte, Filippo Pinto e Vairo, Carolina F. M. deSouza, Roberto Giugliani, Gustavo R. Isolan, Marco Antonio Stefani   +7 more
doaj   +1 more source