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 +8 more
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Enzyme Replacement Therapy for Fabry Disease [PDF]
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 +1 more
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Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports [PDF]
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
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Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy [PDF]
Therapeutics and Clinical Risk Management, 2020 Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a progressive neurodegenerative disease that results in early-onset, severe, progressive, neurological disabilities, leading to death in late childhood or early adolescence. Management has relied on
N. Specchio, N. Pietrafusa, M. Trivisano
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Enzyme replacement therapy for pancreatic insufficiency: present and future [PDF]
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
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Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease [PDF]
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 +2 more
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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
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EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES [PDF]
Педиатрическая фармакология, 2014 The article presents data on the history of creation of pathogenetic enzyme replacement therapy and its introduction into clinical practice of managing patients with Gaucher’s disease.
O. S. Gundobina +2 more
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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 +4 more
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An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy [PDF]
Drug Design, Development and Therapy, 2016 Ozlem Goker-Alpan,1 Nicola Longo,2 Marie McDonald,3 Suma P Shankar,4,5 Raphael Schiffmann,6 Peter Chang,7 Yinghua Shen,7 Arian Pano7 1Lysosomal Disorders Unit, Fairfax, VA, 2University of Utah, Salt Lake City, UT, 3Department of Pediatrics, Duke ...
Goker-Alpan O +7 more
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