Lysosomal Storage Disorders: A Practical Guide free ebook download.

Home : Book details

Lysosomal Storage Disorders: A Practical Guide free ebook download

Category:
Biomedical Engineering

Views: 114
Likes: 171

Catalogue

Author(s):	Atul B. Mehta

Date:	2013-01-22	Format:	pdf	Language:	English	ISBN/ASIN:	0470670878
Pages:	1	OCR:		Quality:		ISBN13:	9780470670873
Uploader:	tvladb77	Upload Date:	7/9/2022 8:23:40 AM

To download click on link in the Links Table below

Description: Click to see full description

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.

Links Table

	Title	Link	Password	Size (MB)	Thank to	Inform Admin
3133642	Book	https://rapidgator.net/file/3927c1685af9...		0.00	tvladb77
3133643	Book	https://novafile.org/file/c9xxvfrthwlm...		0.00	tvladb77

Tags: Disorders Guide Lysosomal Practical Storage

Title	Link	Password	Size	Reason

Those who downloaded this book also downloaded the following books:
Comments

New comment: