Zobrazeno 1 - 10
of 297
pro vyhledávání: '"enzyme-replacement therapy (ERT)"'
Autor:
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha
Externí odkaz:
https://doaj.org/article/dea8e376910644618a67679fbc33812e
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101106- (2024)
Hearing loss is frequently associated with Gaucher disease (GD). Gaucher cells are enlarged reticuloendothelial cells containing glucocerebroside in the lysosomes due to deficiency of the glucocerebrosidase. Gaucheromas consist of accumulated Gaucher
Externí odkaz:
https://doaj.org/article/7682f144f1bd4501909607e27f31603b
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Autor:
Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatment, increases patient
Externí odkaz:
https://doaj.org/article/b38054f598804cc0b61cfb2424019d8a
Autor:
Eleonora Calzoni, Giada Cerrotti, Krizia Sagini, Federica Delo, Sandra Buratta, Roberto Maria Pellegrino, Husam B. R. Alabed, Federica Fratini, Carla Emiliani, Lorena Urbanelli
Publikováno v:
Journal of Functional Biomaterials, Vol 15, Iss 6, p 153 (2024)
Extracellular vesicles (EVs) can be isolated from biological fluids and cell culture medium. Their nanometric dimension, relative stability, and biocompatibility have raised considerable interest for their therapeutic use as delivery vehicles of macr
Externí odkaz:
https://doaj.org/article/4a60c4be7a2b40a4a1f15b07c4d54926
Autor:
Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 579 (2024)
Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impa
Externí odkaz:
https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5
Akademický článek
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Review of Treatment for Adenosine Deaminase Deficiency (ADA) Severe Combined Immunodeficiency (SCID)
Publikováno v:
Therapeutics and Clinical Risk Management, Vol Volume 18, Pp 939-944 (2022)
Elizabeth Secord,1 Nicholas L Hartog2 1Pediatrics, Division of Allergy and Immunology, Wayne State University School of Medicine, Detroit, MI, USA; 2Pediatrics, Division of Allergy and Immunology, Michigan State University College of Human Medicine,
Externí odkaz:
https://doaj.org/article/be55e1e7248f4f5d9d0bab3e5433df0a
Publikováno v:
Cost Effectiveness and Resource Allocation, Vol 20, Iss 1, Pp 1-12 (2022)
Abstract Objective The objective of this paper is to assess the economic profile of enzyme replacement therapy (ERT) to symptomatic patients with Pompe, Fabry, Gaucher disease and Lysosomal acid lipase (LAL) deficiency. Methods A systematic search wa
Externí odkaz:
https://doaj.org/article/7fed57de948f41c89b53485225116c28
Autor:
Simona Sestito, Giada Rinninella, Angelica Rampazzo, Francesca D’Avanzo, Lucia Zampini, Lucia Santoro, Orazio Gabrielli, Agata Fiumara, Rita Barone, Nicola Volpi, Maurizio Scarpa, Rosella Tomanin, Daniela Concolino
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficit of lysosomal hydrolases involved in the degradation of glycosaminoglycans (GAGs). The course is chronic and progressive, with multisyste
Externí odkaz:
https://doaj.org/article/385edfbf75f64cfe8275dc6a89d9cb43
Publikováno v:
Pediatrics and Neonatology, Vol 64, Iss , Pp S10-S17 (2023)
The mucopolysaccharidoses (MPSs) are a subset of lysosomal storage diseases caused by deficiencies in the enzymes required to metabolize glycosaminoglycans (GAGs), a group of extracellular heteropolysaccharides that play diverse roles in human physio
Externí odkaz:
https://doaj.org/article/d9c646c49ac449c5afb80867b4df49f9