Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is ...
Read More
Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is being introduced. These diseases present to a very wide range of physicians and paediatricians. Gaucher disease may present to orthopaedic surgeons or haematologists with splenomegaly and/or skeletal disease. However, paediatricians see the childhood variants of Gaucher disease and therefore may present it to neurologists. Fabry disease typically does not present in childhood but presents to adult physicians with end organ damage (renal failrure, cardiac disease, stroke, neuropathy, gastrointestinal symptoms). A text book would draw these divergent strands together. There is substantial scientific interest in these diseases. Gaucher is well recognised as a paradigm of a molecular illness, understood at a basic level which is treatable now with specific therapy and is likely to be treatable with gene therapy within the coming five years. New advances in small molecule therapy - e.g. chaperone treatment, modified antibiotics affecting ribosomal function - are likely to be useful for these diseases in the near future. Trials are already underway. These diseases therefore offer a fabulous platform for teaching modern clinical science from basic genetics right the way through to clinical applications.
Read Less
Add this copy of Lysosomal Storage Disorders: a Practical Guide to cart. $1.57, good condition, Sold by Phatpocket Limited rated 5.0 out of 5 stars, ships from Waltham Abbey, ESSEX, UNITED KINGDOM, published 2013 by Wiley-Blackwell.
Choose your shipping method in Checkout. Costs may vary based on destination.
Seller's Description:
Good. Ships from UK in 48 hours or less (usually same day). Your purchase helps support Sri Lankan Children's Charity 'The Rainbow Centre'. Ex-library, so some stamps and wear, but in good overall condition. 100% money back guarantee. We are a world class secondhand bookstore based in Hertfordshire, United Kingdom and specialize in high quality textbooks across an enormous variety of subjects. We aim to provide a vast range of textbooks, rare and collectible books at a great price. Our donations to The Rainbow Centre have helped provide an education and a safe haven to hundreds of children who live in appalling conditions. We provide a 100% money back guarantee and are dedicated to providing our customers with the highest standards of service in the bookselling industry.
Add this copy of Lysosomal Storage Disorders: a Practical Guide to cart. $5.39, fair condition, Sold by SELL BOOKS LTD rated 5.0 out of 5 stars, ships from London, LONDON, UNITED KINGDOM, published 2012 by Wiley-Blackwell.
Choose your shipping method in Checkout. Costs may vary based on destination.
Seller's Description:
Fair. Please see the condition note after this for details, if this is missing please consider Acceptable to mean poor quality that could include major staining, water damage, writing, missing dustjacket, etc etc. Our books are dispatched from a Yorkshire former cotton mill. We list via barcode/ISBN so please note that the images are stock images and may not be the exact copy you receive, furthermore the details about edition and year might not be accurate as many publishers reuse the same ISBN for.
Add this copy of Lysosomal Storage Disorders: a Practical Guide to cart. $24.98, very good condition, Sold by Books Revisited rated 4.0 out of 5 stars, ships from Saint Cloud, MN, UNITED STATES, published 2013 by Wiley-Blackwell.
Add this copy of Lysosomal Storage Disorders: a Practical Guide to cart. $58.31, good condition, Sold by Bonita rated 4.0 out of 5 stars, ships from Santa Clarita, CA, UNITED STATES, published 2013 by Wiley-Blackwell.
Add this copy of Lysosomal Storage Disorders: a Practical Guide to cart. $91.83, new condition, Sold by Just one more Chapter rated 4.0 out of 5 stars, ships from Miramar, FL, UNITED STATES, published 2013 by Wiley-Blackwell.
