Results 11 to 20 of about 496,759 (383)

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

Enzyme Replacement Therapy for Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare X-linked disease caused by the deficiency of α-galactosidase that leads to the accumulation of abnormal glycolipid. Untreated patients develop potentially lethal complications by age 30 to 50 years. Enzyme replacement therapy is the current standard of therapy for Fabry disease.
Sanchez-Niño, Maria Dolores, Ortiz, Alberto   +1 more
openaire   +5 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. A major cause of weight loss is malnutrition. Patients may experience pancreatic exocrine insufficiency
Raffaele Pezzilli, Riccardo Caccialanza, Gabriele Capurso, Oronzo Brunetti, Michele Milella, Massimo Falconi   +5 more
openaire   +4 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

Targeted nanoliposomes to improve enzyme replacement therapy of Fabry disease [PDF]

Sci Adv
Targeted nanoliposomes; Enzyme replacement therapy; Fabry diseaseNanoliposomes; Teràpia de reemplaçament enzimàtic; Malaltia de FabryNanoliposomas; Terapia de reemplazo enzimático; Enfermedad de FabryThe central nervous system represents a major target ...
Abasolo, Ibane, Cristóbal Lecina, Edgar, Diaz Riascos, Zamira Vanessa, Merlo-Mas, Josep, Moltó Abad, Marc, Schwartz, Simo, Soldevila, Andreu, Tomsen Melero, Judit   +7 more
core   +2 more sources

Enzyme Replacement Therapy for Genetic Disorders Associated with Enzyme Deficiency

Current Medicinal Chemistry, 2022
:Mutations in human genes might lead to the loss of functional proteins, causing diseases. Among these genetic disorders, a large class is associated with the deficiency in metabolic enzymes, resulting in both an increase in the concentration of substrates and a loss in the metabolites produced by the catalyzed reactions. The identification of therapeu-
Marialaura Marchetti, Serena Faggiano, Andrea Mozzarelli   +2 more
openaire   +6 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

Modifying enzyme replacement therapy – A perspective [PDF]

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.
Schaible P.
openaire   +4 more sources

Update on role of agalsidase alfa in management of Fabry disease [PDF]

Drug Design, Development and Therapy, 2011
Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women. The manifestations of this heterogeneous disease are multisystemic and progressive.
Ramaswami, Uma
core   +6 more sources

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease

Biologics: Targets & Therapy, 2008
Fernando C Fervenza1, Roser Torra2, David G Warnock31Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; 2Department of Nephrology, Fundació Puigvert, Barcelona, Spain; 3Division of Nephrology ...
Fernando C Fervenza, Roser Torra, David G Warnock   +2 more
doaj   +3 more sources