Results 1 to 10 of about 567,465 (341)

Enzyme replacement therapy: efficacy and limitations [PDF]

Italian Journal of Pediatrics, 2018
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a long-term follow-up for MPS I, MPS II, and ...
Daniela Concolino, Federica Deodato, Rossella Parini   +2 more
doaj   +4 more sources

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. [PDF]

PLoS ONE, 2017
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy.
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak   +10 more
doaj   +4 more sources

Pancreatic Enzyme Replacement Therapy in Pancreatic Cancer [PDF]

Cancers, 2020
Pancreatic cancer is an aggressive malignancy and the seventh leading cause of global cancer deaths in industrialised countries. More than 80% of patients suffer from significant weight loss at diagnosis and over time tend to develop severe cachexia.
R. Pezzilli, R. Caccialanza, G. Capurso, O. Brunetti, M. Milella, M. Falconi   +5 more
semanticscholar   +3 more sources

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   +2 more sources

Pancreatic Enzyme Replacement Therapy in Cystic Fibrosis

Nutrients, 2022
While typically considered a pulmonary disease, cystic fibrosis patients develop significant nutritional complications and comorbidities, especially those who are pancreatic insufficient.
Peter N. Freswick, Elizabeth Reid, M. Mascarenhas   +2 more
semanticscholar   +3 more sources

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis

Health Technology Assessment
Background Late-onset Pompe disease is a rare inherited genetic condition that causes progressive muscle dysfunction and damage. As the disease advances, the progressive weakening of respiratory muscles significantly increases the risk of respiratory ...
Mark Corbett, Chinyereugo Umemneku-Chikere, Sarah Nevitt, Nyanar Jasmine Deng, Matthew Walton, Helen Fulbright, Chong Yew Tan, Robin Lachmann, Rachel Churchill, Robert Hodgson   +9 more
doaj   +2 more sources

Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy [PDF]

Molecular Therapy: Methods & Clinical Development, 2017
Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Lin Liu, Wang-Sik Lee, B. Doray, S. Kornfeld   +3 more
semanticscholar   +4 more sources

Enzyme-replacement therapy in life-threatening hypophosphatasia [PDF]

New England Journal of Medicine, 2012
Hypophosphatasia results from mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Inorganic pyrophosphate accumulates extracellularly, leading to rickets or osteomalacia. Severely affected babies often die from respiratory insufficiency due to progressive chest deformity or have persistent bone disease.
et al,, McAlister, William H, Whyte, Michael P   +2 more
core   +5 more sources

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports

Journal of Medical Case Reports, 2018
Background Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative.
Dominick Amato, Mary Anne Patterson
doaj   +2 more sources

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage [PDF]

Children
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura   +9 more
doaj   +2 more sources