Results 1 to 10 of about 460,260 (336)

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

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

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   +3 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

Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

Autophagy, 2020
CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of the
Marina Mikhaylova, André R A Marques, Alessandro Di Spiezio   +2 more
exaly   +2 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

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

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   +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

Fabry Disease: Switch from Enzyme Replacement Therapy to Oral Chaperone Migalastat: What Do We Know Today?

Healthcare, 2023
Fabry disease is a lysosomal storage disorder caused by the deficiency of the α-galactosidase-A enzyme. The result is the progressive accumulation of complex glycosphingolipids and cellular dysfunction.
F. Perretta, Sebastián Jaurretche
semanticscholar   +1 more source

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

New England Journal of Medicine, 2022
SUMMARY Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM ...
Jennifer L. Cohen, P. Chakraborty, K. Fung-Kee-Fung, M. Schwab, D. Bali, S. Young, M. Gelb, H. Khaledi, A. DiBattista, S. Smallshaw, F. Moretti, Derek Wong, C. Lacroix, D. El Demellawy, Kyle C. Strickland, J. Lougheed, A. Moon‐Grady, B. Lianoglou, P. Harmatz, P. Kishnani, T. Mackenzie   +20 more
semanticscholar   +1 more source