Results 1 to 10 of about 133,872 (296)

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

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report [PDF]

Journal of Medical Case Reports, 2022
Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans.
Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco   +8 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.
Maria Dolores Sanchez-Niño PhD, Alberto Ortiz MD, PhD   +1 more
doaj   +3 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   +3 more sources

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   +3 more sources

Enzyme replacement therapy for pancreatic insufficiency: present and future

Clinical and Experimental Gastroenterology, 2011
Aaron Fieker1, Jessica Philpott1, Martine Armand21Division of Digestive Diseases, University of Oklahoma, OKC, OK, USA; 2INSERM, U476 "Nutrition Humaine et Lipides", Marseille, F-13385 France; Univ Méditerranée Aix-
Fieker A, Philpott J, Arm, M
doaj   +1 more source

Enzyme replacement therapy for Fabry disease: some answers but more questions

Therapeutics and Clinical Risk Management, 2011
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
doaj   +3 more sources

Enzyme Replacement Therapy

, 2018
Enzyme replacement therapy is a therapeutic approach in which the specific enzyme that is absent or inactive in affected individuals is replaced with a functional enzyme molecule derived from biological sources or produced by biotechnology.
Abderrezak Khelfi
core   +2 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   +1 more source

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders [PDF]

Molecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul   +4 more
doaj   +2 more sources