Results 11 to 20 of about 3,952,882 (246)

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

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

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

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

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

Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement [PDF]

Orphanet Journal of Rare Diseases
Background Pompe disease, also known as glycogen storage disease type II, is a rare, progressive lysosomal storage disorder caused by pathogenic variants in the GAA gene.
Benedikt Schoser
doaj   +2 more sources

The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review

, 2006
The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic ...
A. Fry-Smith (7583627), Anthony O'Hagan (590), M. Connock (7583618), A. Juarez-Garcia (7583630), E. Frew (7583624), Alex J. Sutton (7579679), A. Burls (7583621), Allan J. Wailoo (7579928), D. Moore (7583633), Keith R. Abrams (7579436), Chris McCabe (7583591), N. Cooper (7171460)   +11 more
core   +10 more sources

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

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   +2 more sources

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy [PDF]

, 2011
Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging.
Breunig Frank, Wanner, Christoph, Hughes, D A, Warnock, D G, Derralynn A Hughes, Mullen, William, Andreas D. Kistler, Andreas D Kistler, Kistler Andreas D., Jeevaratnam, P, Serra, AL, Siwy, Justyna, Frank, Breunig, Derralynn A. Hughes, Scherl, A, Alexander Scherl, Mischak Harald, Mischak, H., Wüthrich, Rudolf P., Andreas L Serra, Jeevaratnam Praveen, Warnock, D.G., Kistler, A D, Jeevaratnam, P., Rudolf P. Wüthrich, Warnock, DG, Wüthrich Rudolf P., Wanner Christoph, Frank Breunig, Praveen Jeevaratnam, Justyna Siwy, Wüthrich, R P, Serra, A L, Serra Andreas L., Mischak, Harald, Hughes, DA, David G. Warnock, Breunig, F, Serra, Andreas L., Serra, A.L., Christoph Wanner, Jeevaratnam, Praveen, William Mullen, Kistler, AD, Scherl, A., Siwy, J., Hughes Derralynn A., Wanner, C., Mischak, H, Siwy Justyna, Warnock, David G., Andreas L. Serra, Scherl, Alexander, Wanner, C, Wüthrich, R.P., Kistler, Andreas D., Mullen, W., Breunig, F., Siwy, J, Hughes, Derralynn A., Wuthrich, RP, Mullen William, Kistler, A.D., Harald Mischak, Hughes, D.A., Scherl Alexander, David G Warnock, Rudolf P Wüthrich, Warnock David G., Mullen, W, Mullen W, Scherl A, Wanner C, Mischak H, Siwy J, Hughes DA, Serra AL, Breunig F, Kistler AD, Jeevaratnam P, Warnock DG, Wüthrich RP   +81 more
core   +1 more source

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses

, 2021
Background: Mucopolysaccharidoses are extremely rare, progressive, often severe multi-system disorders, some of which are managed by weekly intravenous enzyme replacement therapy.
YILDIZ, YILMAZ, SİVRİ, HATİCE SERAP, Yılmaz Yıldız, H. Serap Sivri   +3 more
core   +1 more source