Lysosomal Storage Disorders Book by Atul B. Mehta
Home > Science & Mathematics > Biology, life sciences > Microbiology (non-medical) > Lysosomal Storage Disorders
Lysosomal Storage Disorders

Lysosomal Storage Disorders


     0     
5
4
3
2
1



Out of Stock


Notify me when this book is in stock
About the Book

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.


About the Author: Edited by
Atul Mehta, Professor of Haematology, University College London,
Royal Free Hospital, London, UK

Bryan Winchester, Emeritus Professor of Biochemistry, UCL Institute of Child Health
at Great Ormond Street Hospital, University College London, London, UK


Best Sellers



Product Details
  • ISBN-13: 9780470670873
  • Publisher: Wiley-Blackwell
  • Publisher Imprint: Wiley-blackwell
  • Depth: 13
  • Height: 246 mm
  • No of Pages: 208
  • Spine Width: 10 mm
  • Weight: 521 gr
  • ISBN-10: 0470670878
  • Publisher Date: 22 Jan 2013
  • Binding: Paperback
  • Edition: 1
  • Language: English
  • Returnable: Y
  • Sub Title: A Practical Guide
  • Width: 191 mm


Similar Products

Add Photo
Add Photo

Customer Reviews

REVIEWS      0     
Click Here To Be The First to Review this Product
Lysosomal Storage Disorders
Wiley-Blackwell -
Lysosomal Storage Disorders
Writing guidlines
We want to publish your review, so please:
  • keep your review on the product. Review's that defame author's character will be rejected.
  • Keep your review focused on the product.
  • Avoid writing about customer service. contact us instead if you have issue requiring immediate attention.
  • Refrain from mentioning competitors or the specific price you paid for the product.
  • Do not include any personally identifiable information, such as full names.

Lysosomal Storage Disorders

Required fields are marked with *

Review Title*
Review
    Add Photo Add up to 6 photos
    Would you recommend this product to a friend?
    Tag this Book Read more
    Does your review contain spoilers?
    What type of reader best describes you?
    I agree to the terms & conditions
    You may receive emails regarding this submission. Any emails will include the ability to opt-out of future communications.

    CUSTOMER RATINGS AND REVIEWS AND QUESTIONS AND ANSWERS TERMS OF USE

    These Terms of Use govern your conduct associated with the Customer Ratings and Reviews and/or Questions and Answers service offered by Bookswagon (the "CRR Service").


    By submitting any content to Bookswagon, you guarantee that:
    • You are the sole author and owner of the intellectual property rights in the content;
    • All "moral rights" that you may have in such content have been voluntarily waived by you;
    • All content that you post is accurate;
    • You are at least 13 years old;
    • Use of the content you supply does not violate these Terms of Use and will not cause injury to any person or entity.
    You further agree that you may not submit any content:
    • That is known by you to be false, inaccurate or misleading;
    • That infringes any third party's copyright, patent, trademark, trade secret or other proprietary rights or rights of publicity or privacy;
    • That violates any law, statute, ordinance or regulation (including, but not limited to, those governing, consumer protection, unfair competition, anti-discrimination or false advertising);
    • That is, or may reasonably be considered to be, defamatory, libelous, hateful, racially or religiously biased or offensive, unlawfully threatening or unlawfully harassing to any individual, partnership or corporation;
    • For which you were compensated or granted any consideration by any unapproved third party;
    • That includes any information that references other websites, addresses, email addresses, contact information or phone numbers;
    • That contains any computer viruses, worms or other potentially damaging computer programs or files.
    You agree to indemnify and hold Bookswagon (and its officers, directors, agents, subsidiaries, joint ventures, employees and third-party service providers, including but not limited to Bazaarvoice, Inc.), harmless from all claims, demands, and damages (actual and consequential) of every kind and nature, known and unknown including reasonable attorneys' fees, arising out of a breach of your representations and warranties set forth above, or your violation of any law or the rights of a third party.


    For any content that you submit, you grant Bookswagon a perpetual, irrevocable, royalty-free, transferable right and license to use, copy, modify, delete in its entirety, adapt, publish, translate, create derivative works from and/or sell, transfer, and/or distribute such content and/or incorporate such content into any form, medium or technology throughout the world without compensation to you. Additionally,  Bookswagon may transfer or share any personal information that you submit with its third-party service providers, including but not limited to Bazaarvoice, Inc. in accordance with  Privacy Policy


    All content that you submit may be used at Bookswagon's sole discretion. Bookswagon reserves the right to change, condense, withhold publication, remove or delete any content on Bookswagon's website that Bookswagon deems, in its sole discretion, to violate the content guidelines or any other provision of these Terms of Use.  Bookswagon does not guarantee that you will have any recourse through Bookswagon to edit or delete any content you have submitted. Ratings and written comments are generally posted within two to four business days. However, Bookswagon reserves the right to remove or to refuse to post any submission to the extent authorized by law. You acknowledge that you, not Bookswagon, are responsible for the contents of your submission. None of the content that you submit shall be subject to any obligation of confidence on the part of Bookswagon, its agents, subsidiaries, affiliates, partners or third party service providers (including but not limited to Bazaarvoice, Inc.)and their respective directors, officers and employees.

    Accept

    New Arrivals



    Inspired by your browsing history


    Your review has been submitted!

    You've already reviewed this product!