Enzyme replacement therapy
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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. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease.
5p vigojek 02-02-2024 3 1 Download
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Malnutrition and weight loss are commonly observed in patients with pancreatic cancer and contribute to poor survival. Pancreatic exocrine insufficiency (PEI), which can be caused by ductal obstruction by a tumor, causes maldigestion and malabsorption of nutrients, thus contributing to malnutrition in these patients.
8p vibaku2711 22-07-2020 28 2 Download
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To review the diagnosis and clinical course of a woman with hypophosphatasia who is being treated with newly approved enzyme replacement therapy, asfotase alfa.
5p caothientrangnguyen 09-05-2020 10 0 Download
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Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
9p vimax2711 30-03-2020 4 0 Download
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Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood.
10p vichengshin2711 29-02-2020 5 0 Download
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Five years have passed since the first edition of Principles of Clinical Pharmacology was published. The second edition remains focused on the principles underlying the clinical use and contemporary development of pharmaceuticals. However, recent advances in the areas of pharmacogenetics, membrane transport, and biotechnology and in our understanding of the pathways of drug metabolism, mechanisms of enzyme induction, and adverse drug reactions have warranted the preparation of this new edition.
568p mnemosyne75 02-02-2013 72 20 Download
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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Musings on genome medicine: enzyme-replacement therapy of the lysosomal storage diseases
3p panasonic02 15-12-2011 42 2 Download
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Enzyme replacement therapy (ERT) with α-galactosidase A (α-Gal A) is currently the most effective therapeutic strategy for patients with Fabry disease, a lysosomal storage disease. However, ERT has limitations of a short half-life, requirement for frequent administration, and limited efficacy for patients with renal failure. Therefore, we investigated the efficacy of recombinant adeno-associated virus (rAAV) vector-mediated gene therapy for a Fabry disease mouse model and compared it with that of ERT.
10p toshiba23 18-11-2011 54 3 Download