Results 51 to 60 of about 23,853 (147)

Social functioning and behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome] [PDF]

, 2017
Background: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline.
C Pitt, CA Mazefsky, CJ Colletti, D Moore, E Plasschaert, E Shapiro, EG Shapiro, EM Dykens, J Constantino, J Moss, J-F Lepage, JA Owens, JB Eisengart, JN Constantino, K D’Aco, KA Driscoll, KJ Bjoraker, L Quine, L Quine, L Wiggs, LV Mahon, M Aldenhoven, MC Bax, MK Cousino, P Arn, RR Abidin, S Garg, TM Achenbach, WJ Krivit   +28 more
core   +3 more sources

CRISPR/Cas9‐Mediated Knockouts of the ALG3 and GNTI in N. benthamiana and Their Application to Pharmaceutical Production

Plant Biotechnology Journal, Volume 23, Issue 12, Page 5894-5916, December 2025.
ABSTRACT N‐Glycosylation critically influences the efficacy, safety and pharmacokinetic properties of biopharmaceuticals. Plant expression platforms offer multiple advantages for the production of N‐glycosylated proteins, but their use is impeded by the presence of plant‐specific N‐glycan epitopes, which raise concerns of possible immunogenicity to ...
Dolgormaa Bataa, Hiroyuki Kajiura, Reimi Lai Sang Sawada‐Choi, Yukino Yamashita, Takeshi Ishimizu, Ryo Misaki, Atsushi Takeda, Kazuhito Fujiyama   +7 more
wiley   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Utility and Safety of Romiplostim in Pediatric Allogeneic Stem Cell Transplantation

Pediatric Transplantation, Volume 29, Issue 8, December 2025.
ABSTRACT Background The use of romiplostim, a thrombopoietin agonist, has increased in the last decade for the treatment of immune mediated thrombocytopenia and severe aplastic anemia. Its utility has been explored in the management of delayed platelet engraftment and secondary platelet failure during stem cell transplant (SCT), but its use has ...
Srividhya Senthil, Abdul Moothedath, Jane Elizabeth Potter, Heather Mcgrath Wilkinson, Eden Whiteside, Ramya Nataraj, Omima Mustafa, Claire Horgan, Denise Bonney, Sarah Brett, Rob Wynn   +10 more
wiley   +1 more source

Engineered RNA Devices for In Vivo Targeted Therapeutics via Advanced Delivery Systems

Aggregate, Volume 6, Issue 11, November 2025.
Schematic illustration of engineered RNA devices for in vivo targeted therapeutics via advanced delivery systems. ABSTRACT Engineered RNA devices can identify disease‐specific markers and precisely regulate gene expression, which is of great significance to the development of precision medicine.
Wei Luo, Xia Liu, Ying Han, Yijing Duan, Chuao Yu, Na Kong, Tian Xie   +6 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

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

Arthritis Care &Research, Volume 77, Issue 12, Page 1395-1402, December 2025.
María Á. Puche‐Larrubia, Inmaculada C. Aranda‐Valera, Alejandro Escudero‐Contreras, Rosa Roldán‐Molina   +3 more
wiley   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds, part 1 : shepherds [PDF]

, 2016
In light of improving breeding advice, the frequency was estimated for all the disease-causing mutations that were known at the start of the study and that are potentially relevant for a group of dog breeds, which are relatively popular or in which the ...
Beckers, Evy, Peelman, Luc, Ronsyn, L, Van Poucke, Mario   +3 more
core   +1 more source

Mucopolysaccharidosis VI

Journal of Inborn Errors of Metabolism and Screening, 2015
Introduction :Mucopolysaccharidosis VI (MPS VI) is the result of the absence of arylsulfatase B leading to the abnormal lysosomal accumulation of glycosaminoglycans. Two different phenotypes have been described to date, namely, rapidly progressive and slowly progressive.
Juan Politei, Andrea Schenone, Cabrera Gustavo, Alejandra Antacle, Marina Szlago   +4 more
openaire   +2 more sources