Results 61 to 70 of about 1,760 (179)

Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase [PDF]

Human Molecular Genetics, 2005
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disease caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency. In recent studies of enzyme replacement therapy for animal models with lysosomal storage diseases, cellular and humoral immune responses to the injected enzymes have been recognized as major impediments to ...
Shunji, Tomatsu, Monica, Gutierrez, Tatsuo, Nishioka, Masamichi, Yamada, Mana, Yamada, Yasuhiro, Tosaka, Jeffrey H, Grubb, Adriana M, Montaño, Matheus B, Vieira, Georgeta G, Trandafirescu, Olga M, Peña, Seiji, Yamaguchi, Koji O, Orii, Tadao, Orii, Akihiko, Noguchi, Leticia, Laybauer   +15 more
openaire   +2 more sources

Additional file 2: of Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

, 2019
Oxford CEBM grading for MPS IVA: Tables detailing the evidence levels given to each reference supporting the MPS IVA guidance statements and the Evidence Grades applied to each guidance statement. Evidence levels were assessed using the Oxford Centre for
Hernan Amartino (6753356), Yoshikatsu Eto (6753371), Andrea Jester (6753374), Andrew McFadyen (6753383), Paul Orchard (3443702), Elizabeth Braunlin (6753368), Kumar Belani (6753362), Andrea Borgo (6753365), Jeffrey Gold (3443711), Paul Harmatz (426492), Cengiz Karsli (6753377), Tord Alden (6753353), Torayuki Okuyama (3190290), John Mitchell (3314499), Jane Ashworth (6753359), Diane Marinho (6753380), Joseph Muenzer (4489801), Robert Walker (78026), William Mackenzie (6245486), Bob Stevens (6753389), Simon Jones (26390), Robert Wynn (6753392), Maurizio Scarpa (3167829), Kenneth Berger (3443696), Roberto Giugliani (398540), Christian Hendriksz (3443699), Jim McGill (6753386), Mehmet Akyol (6753350), Sophie Thomas (3181170)   +28 more
core   +1 more source

Update on safety and feasibility of the combination of pembrolizumab and pelvic chemoradiation in locally advanced cervical cancer

Cancer, Volume 131, Issue 4, 15 February 2025.
Abstract Background The addition of immune checkpoint inhibitors to standard‐of‐care chemoradiation (CRT) is established as the new standard of care in high‐risk, locally advanced cervical cancer. However, the optimal sequencing of therapies is unknown.
Linda R. Duska, Gina R. Petroni, Premal H. Thaker, Erin K. Crane, Laura L. Holman, Debrorah K. Armstrong, Kara Romano, Jennifer Scalici   +7 more
wiley   +1 more source

Evaluation of the CRISPR/Cas9 system as genome editing platform for the Mucopolysaccharidosis IV A using a strategy for induction of higher homologous recombination frequency

Universitas Scientiarum
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding for the hydrolase N-acetylgalactose-6-sulfate sulfatase (GALNS). GALNS deficiency leads to a progressive buildup of partially degraded chondroitin-
Diego Alejandro Suarez, Andrés Felipe Leal, Carlos Javier Alméciga Díaz   +2 more
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

Correlation Between Age and z Score of Aortic Root Dimensions in MPS IVA Patients.

, 2016
Patients with MPS IVA develop a dilatation of the aortic root in relation to BSA with ageing (r2 = 0.586; ANOVA F:95.717 ...
Christina Lampe (426094), Tariq Abu-Tair (3112209), Seyfullah Gökce (3112203), Christiane M. Wiethoff (3112206), Eugen Mengel (670324), Jörg Reinke (3112215), Christoph Kampmann (3112212), Julia B. Hennermann (792374)   +7 more
core   +1 more source

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome). [PDF]

PLoS ONE, 2016
Mucopolysaccharidosis (MPS) IVA is a rare lysosomal storage disorder with multiple skeletal and non-skeletal abnormalities requiring multiple surgical interventions.
Christoph Kampmann, Tariq Abu-Tair, Seyfullah Gökce, Christina Lampe, Jörg Reinke, Eugen Mengel, Julia B Hennermann, Christiane M Wiethoff   +7 more
doaj   +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

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

Molecular Genetics and Metabolism Reports, 2018
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 ...
Caitlin Doherty, Lauren W. Averill, Mary Theroux, William G. Mackenzie, Christian Pizarro, Robert W. Mason, Shunji Tomatsu   +6 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources