Results 51 to 60 of about 460,260 (336)

A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy [PDF]

, 2014
Enzyme replacement therapy is currently the only approved treatment for Pompe disease, due to acid α-glucosidase deficiency. Clinical efficacy of this approach is variable, and more effective therapies are needed.
Della Casa R, RAVAGLIA, SABRINA MARIA, DELLA CASA, ROBERTO, Ombrone D, DE FILIPPI, PAOLA, Porto C, DANESINO, CESARE, Ravaglia S, PARENTI, GIANCARLO, Fecarotta S, ANDRIA, GENEROSO, FECAROTTA, SIMONA, la Marca G, ROMANO, ALFONSO, Pichiecchio A, MOLLICA, CARMINE, Donati MA, Andria G., ASCIONE, SERENA, Rossi B, Parenti G, Donati, MA, Rosa M, PORTO, CATERINA, De Filippi P, Morandi LO, Nusco E, Ascione S, Romano A, Danesino C, Mollica C, Agovino T, Sacchini M, Pasanisi MB   +33 more
core   +1 more source

Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024

European Journal of Neurology
Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023.
B. Schoser, N. A. Beek, Alexander Broomfield, Esther Brusse, J. Díaz-Manera, Andreas Hahn, T. Hundsberger, Cornelia Kornblum, Michelle E. Kruijshaar, P. Laforêt, Eugen Mengel, T. Mongini, D. Orlikowski, G. Parenti, W. Pijnappel, Mark E. Roberts, Thomas Scherer, Antonio Toscano, J. Vissing, J. Hout, P. A. Doorn, S. Wenninger, A. T. Ploeg   +22 more
semanticscholar   +1 more source

Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII.

Molecular Genetics and Metabolism, 2020
Mucopolysaccharidosis VII (MPS VII) is a rare lysosomal storage disease characterized by a deficiency in the enzyme β-glucuronidase that has previously been successfully treated in a mouse model with enzyme replacement therapy.
J. Cadaoas, G. Boyle, S. Jungles, Sean P. Cullen, M. Vellard, J. Grubb, A. Jurecka, W. Sly, E. Kakkis   +8 more
semanticscholar   +1 more source

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.

Molecular Genetics and Metabolism, 2019
BACKGROUND Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy
M. Spada, R. Baron, P. Elliott, B. Falissard, M. Hilz, L. Monserrat, C. Tøndel, A. Tylki-Szymańska, C. Wanner, D. Germain   +9 more
semanticscholar   +1 more source

Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients

Neuropediatrics, 2020
Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases.
C. Schwering, G. Kammler, E. Wibbeler, M. Christner, J. Knobloch, M. Nickel, J. Denecke, M. Baehr, A. Schulz   +8 more
semanticscholar   +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

Polymeric nanoreactors for enzyme replacement therapy of MNGIE [PDF]

Journal of Controlled Release, 2010
The lack of a crucial metabolic enzyme can lead to accumulating substrate concentrations in the bloodstream and severe human enzyme deficiency diseases. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is such a fatal genetic disorder, caused by a thymidine phosphorylase deficiency.
De Vocht, Caroline, Ranquin, An, Van Ginderachter, Jo, Vanhaecke, Tamara, Rogiers, Vera, Van Gelder, Patrick, Versees, Wim, Steyaert, Jan   +7 more
openaire   +4 more sources

The COVID-19 Pandemic and Enzyme Replacement Therapy in Lysosomal Storage Disorders [PDF]

, 2021
Aim:The coronavirus disease-2019 (COVID-19) pandemic has caused a worldwide public health emergency, especially affecting people with chronic illnesses including lysosomal storage disorders (LSDs).
Çiğdem Seher Kasapkara, Kilic, Mustafa, Molla, Gulhan Karakaya, Yılmaz Yıldız, KASAPKARA, ÇİĞDEM SEHER, Burak Açıkel, Gülhan Karakaya Molla, Yildiz, Yilmaz, Acikel, Burak, Mustafa Kılıç, Olgaci, Asburce, Asburçe Olgaç   +11 more
core   +1 more source

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +2 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source