Results 1 to 10 of about 532,411 (388)

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 ...
D. Concolino, F. Deodato, R. Parini
semanticscholar   +5 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.
M. Arends, M. Biegstraaten, D. Hughes, A. Mehta, P. Elliott, D. Oder, O. Watkinson, F. Vaz, A. V. van Kuilenburg, C. Wanner, C. Hollak   +10 more
semanticscholar   +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.
R. Pezzilli, R. Caccialanza, G. Capurso, O. Brunetti, M. Milella, M. Falconi   +5 more
semanticscholar   +3 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 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.
Michael P, Whyte, Cheryl R, Greenberg, Nada J, Salman, Michael B, Bober, William H, McAlister, Deborah, Wenkert, Bradley J, Van Sickle, Jill H, Simmons, Terence S, Edgar, Martin L, Bauer, Mohamed A, Hamdan, Nick, Bishop, Richard E, Lutz, Mairead, McGinn, Stanley, Craig, Jean N, Moore, John W, Taylor, Robert H, Cleveland, William R, Cranley, Ruth, Lim, Tom D, Thacher, Jill E, Mayhew, Matthew, Downs, José Luis, Millán, Alison M, Skrinar, Philippe, Crine, Hal, Landy   +26 more
openaire   +5 more sources

Contribution of pancreatic enzyme replacement therapy to survival and quality of life in patients with pancreatic exocrine insufficiency

World Journal of Gastroenterology, 2019
The objective of this study was to analyze the current evidence for the use of pancreatic enzyme replacement therapy (PERT) in affecting survival and quality of life in patients with pancreatic exocrine insufficiency (PEI).
Peter Layer, N. Kashirskaya, N. B. Gubergrits   +2 more
openalex   +3 more sources

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, 2021
Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases.
Christoph Schwering, Gertrud Kammler, Eva Wibbeler, Martin Christner, Johannes K.‐M. Knobloch, Miriam Nickel, Jonas Denecke, Michael Baehr, Angela Schulz   +8 more
openalex   +2 more sources

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy [PDF]

Journal of Medical Genetics, 2017
Background Fabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation.
Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, Heounjeong Go, Kyung Yong Kim, Jae Yong Jung, Minji Kang, Gu-Hwan Kim, Jae‐Min Kim, In-Hee Choi, Jin‐Ho Choi, Sung‐Chul Jung, Robert J. Desnick, Han‐Wook Yoo, Beom Hee Lee   +14 more
openalex   +2 more sources

Pancreatic Enzyme Replacement Therapy Improves Exclusive Enteral Nutrition Related Diarrhea in Crohn's Disease: A Prospective Randomized Trial. [PDF]

United European Gastroenterol J
Mammadov S, Yağli MA, Ormeci AC.
europepmc   +4 more sources

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy. [PDF]

J Inherit Metab Dis
Kampmann C, Lampe C, Wiethoff CM, Arash-Kaps L, Mengel E, Reinke J, Beck M, Hennermann JB, Abu-Tair T.   +8 more
europepmc   +3 more sources