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Enzyme-Replacement Therapies for Lysosomal Storage Diseases: Technical Brief Num

Description: Enzyme-Replacement Therapies for Lysosomal Storage Diseases by U.S. Department of Heal Human Services, Agency for Healthcare Resea And Quality, Agency for Healthcare Resea Estimated delivery 3-12 business days Format Paperback Condition Brand New Description Lysosomes are generally spherical, subcellular organelles bounded by a single layer membrane within eukaryotic cells. They are ubiquitous structures that contain an array of glycoprotein acid hydrolase enzymes, all of which are synthesized in the endoplasmic reticulum and modified in the Golgi apparatus. Lysosomal enzymes catabolize all major classes of biological macromolecules such as proteins, nucleic acids, glycosphingolipids, mucopolysaccharides, and glycogen, as well as sequestered bacteria, viruses, and other foreign substances that are taken up by phagocytosis into white blood cells and macrophages. Lysosomes are also responsible for autophagy, the gradual turnover of each cells own components as they age and become obsolescent. They may be considered the main site of intracellular digestion and housekeeping. Lysosomal storage diseases (LSDs) comprise a group of unique monogenic autosomal or Xlinked diseases that occur secondary to genetic defects (e.g., single nucleotide substitutions, frameshift mutations, gene deletions) that cause total deficiency or reduced activity of specific native enzymes within the lysosomes. This allows macromolecular compounds that are normally enzymatically catabolized to accumulate within these organelles, expanding them and causing progressive damage in connective tissue, skeletal structure, various organs, and, in some cases, the central nervous system. The damage caused by substrate accumulation results in physical deterioration, functional impairment, and, potentially, death. Some fifty different LSDs have been identified, broadly divided into categories that are defined by accumulation of a specific macromolecule. Although each LSD is individually somewhat rare, as a group they have an incidence of about 1 per 7,000 to 8,000 live births, with regional and genetic population variations. LSDs may be variably expressed as infantile, juvenile, or adult forms. In adult-onset diseases, the pathogenesis is usually slower than in the infantile or juvenile forms, and may include peripheral and CNS symptoms. By contrast, infantile and juvenile forms often involve progressive central nervous system involvement in addition to peripheral symptoms. LSDs also often exhibit significant heterogeneity in ultimate expression, with early or late presentation of symptomatic pathology that may be a function of mutation type and residual enzyme levels. Although specific mutations or types of mutations may be connected to discrete disease effects, genotype-phenotype correlations are often not strong. The objective of this Technical Brief is to provide an overview of FDA-approved ERT for the treatment of six lysosomal storage diseases (shown in Table 1). Four Guiding Questions (following) address the clinical indications for each ERT, potential benefits and harms associated with each ERT product, and dosing and administration details of each ERT. An electronic scan of the literature provides a picture of published evidence on clinical use of these agents for each LSD. This Technical Brief also discusses unresolved or controversial issues surrounding the use of ERT to treat lysosomal storage diseases, based on the literature and information obtained through semi-structured, one-on-one telephone interviews with Key Informants. Guiding Questions include: 1. What FDA-approved enzyme-replacement therapy (ERT) products are available for lysosomal storage diseases (LSDs)? 2. What is the context in which each FDA-approved ERT product is used? 3. What published and unpublished studies have reported on the use and safety of this intervention? 4. What are key unresolved or controversial issues with ERT in LSDs? Details ISBN 148394400X ISBN-13 9781483944005 Title Enzyme-Replacement Therapies for Lysosomal Storage Diseases Author U.S. Department of Heal Human Services, Agency for Healthcare Resea And Quality, Agency for Healthcare Resea Format Paperback Year 2013 Pages 112 Publisher Createspace Independent Publishing Platform GE_Item_ID:90084881; About Us Grand Eagle Retail is the ideal place for all your shopping needs! With fast shipping, low prices, friendly service and over 1,000,000 in stock items - you're bound to find what you want, at a price you'll love! Shipping & Delivery Times Shipping is FREE to any address in USA. Please view eBay estimated delivery times at the top of the listing. Deliveries are made by either USPS or Courier. We are unable to deliver faster than stated. International deliveries will take 1-6 weeks. NOTE: We are unable to offer combined shipping for multiple items purchased. This is because our items are shipped from different locations. Returns If you wish to return an item, please consult our Returns Policy as below: Please contact Customer Services and request "Return Authorisation" before you send your item back to us. Unauthorised returns will not be accepted. Returns must be postmarked within 4 business days of authorisation and must be in resellable condition. Returns are shipped at the customer's risk. We cannot take responsibility for items which are lost or damaged in transit. For purchases where a shipping charge was paid, there will be no refund of the original shipping charge. Additional Questions If you have any questions please feel free to Contact Us. 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Enzyme-Replacement Therapies for Lysosomal Storage Diseases: Technical Brief Num

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ISBN-13: 9781483944005

Book Title: Enzyme-Replacement Therapies for Lysosomal Storage Diseases

Number of Pages: 112 Pages

Publication Name: Enzyme-Replacement Therapies for Lysosomal Storage Diseases : Technical Brief Number 12

Language: English

Publisher: CreateSpace

Item Height: 0.3 in

Subject: Research

Publication Year: 2013

Item Weight: 12.5 Oz

Type: Textbook

Author: Agency for and Quality, U. S. Department Human Services

Item Length: 11 in

Subject Area: Medical

Item Width: 8.5 in

Format: Trade Paperback

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