Results 21 to 30 of about 249,219 (350)

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вопросы современной педиатрии, 2020
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina   +6 more
doaj   +1 more source

Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease [PDF]

, 2014
Background: Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease.
Hakkaart-van Roijen, L. (Leona), Hoogenboom-Plug, I (Iris), Kanters, T.A. (Tim), Ploeg, A.T. (Ans) van der, Redekop, W.K. (Ken), Rutten-van Mölken, M.P.M.H. (Maureen)   +5 more
core   +2 more sources

Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis

Molecular Genetics and Metabolism Reports, 2021
GM1-gangliosidosis is a lysosomal disease resulting from a deficiency in the hydrolase β-galactosidase (β-gal) and subsequent accumulation of gangliosides, primarily in neuronal tissue, leading to progressive neurological deterioration and eventually ...
Michael J. Przybilla, Christine Stewart, Timothy W. Carlson, Li Ou, Brenda L. Koniar, Rohini Sidhu, Pamela J. Kell, Xuntian Jiang, Jeanine R. Jarnes, M. Gerard O'Sullivan, Chester B. Whitley   +10 more
doaj   +1 more source

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation. [PDF]

, 2020
BackgroundMucopolysaccharidosis I (MPS IH) is a lysosomal storage disease treated with hematopoietic cell transplantation (HCT) because it stabilizes cognitive deterioration, but is insufficient to alleviate all somatic manifestations.
A Ghosh, AR Pal, ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories., B Link, Bradley S. Miller, C Peters, C Peters, Chester B. Whitley, DA Stevenson, E Shapiro, E Yasuda, E. Oussoren, EA Braunlin, EA Braunlin, ED Kakkis, EJ Langereis, Elise Northrop, Elizabeth Braunlin, Ellen B. Fung, Ellen Fung, G Malm, I Visigalli, Jakub Tolar, JB Eisengart, JE Wraith, JJ Boelens, JR Hobbs, JS Weisstein, Julie B Eisengart, Julie B. Eisengart, KJ Bjoraker, Kyle Rudser, L Lopez, LA Clarke, LE Polgreen, LE Polgreen, LE Polgreen, Lynda E. Polgreen, M Aldenhoven, M Sifuentes, MA Saif, MD Poe, NE Taylor, NJ Rodgers, Paul J. Orchard, RL Washington, S Laraway, Simon A. Jones, SS Grewal, Troy C. Lund, Weston P. Miller, Y Xue   +51 more
core   +1 more source

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. [PDF]

, 2016
BackgroundFollowing a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease.MethodsIn an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14
Chang, Peter, Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Pano, Arian, Schiffmann, Raphael, Shankar, Suma P, Shen, Yinghua   +7 more
core   +2 more sources

Structure of purine nucleoside phosphorylase (DeoD) from Bacillus anthracis [PDF]

, 2005
Protein structures from the causative agent of anthrax (Bacillus anthracis) are being determined as part of a structural genomics programme. Amongst initial candidates for crystallographic analysis are enzymes involved in nucleotide biosynthesis, since ...
Blagova, E V, Brannigan, J A, Fogg, M J, Grenha, R, Levdikov, V M, Wilkinson, A.J., Wilson, K S   +6 more
core   +3 more sources

Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2019
Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation ...
Amal El Beshlawy, Vagishwari Murugesan, Pramod Kumar Mistry, Khaled Eid   +3 more
doaj   +1 more source

Modifying enzyme replacement therapy – A perspective

Journal of Cellular and Molecular Medicine, 2022
AbstractSeveral diseases are caused by the lack of functional proteins, including lysosomal storage diseases or haemophilia A and B. Patients suffering from one of these diseases are treated via enzyme replacement therapies to restore the missing protein.
openaire   +3 more sources

Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]

, 2017
The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria, Di Marzio, Luisa, Hanieh, PATRIZIA NADIA, Marianecci, Carlotta, Paolino, Donatella, Rinaldi, Federica   +5 more
core   +1 more source

Pancreatic Enzyme Replacement Therapy in hyperglycemic Male Rats

Kufa Journal for Veterinary Medical Sciences, 2020
The study was designed to evaluated exocrine pancreatic enzyme replacement therapy in hyperglycemic male rats induced by alloxan. A total of forty five adult male rats were use in this study, hyperglycemia was induce in thirty rats by single ...
Muhammad Ali Hameed Jalil, Nabeel M. N. Al-Sharafi   +1 more
doaj   +1 more source