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In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition!

Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable prototype for the diagnosis, research, and treatment of others.Like many rare conditions, Gaucher disease has benefited from the explosion of medical research in the last decade, the amount of new information on this disease is staggering and the rate of new discoveries has left previous books on the subject unable to provide useful, up-to-date information.

The most current, fully comprehensive reference to date, Gaucher Disease provides valuable information for academic and industry scientists, and clinicians. Outlining the latest research on the biochemical mechanisms and pathology of lysosomal storage disorders, this book covers diverse topics including animal models, crystallography, imaging and radionuclide evaluation. It not only addresses the developmental basis for current treatments like the now widely available enzyme replacement therapy, but also includes chapters introducing new therapies on the horizon.With contributions from world-renowned experts in substrate reduction therapy, pharmaceutical chaperone therapy, hematopoietic stem cell transplantation and gene therapy, as well as chapters on a second generation of enzyme replacement therapy, this book explores the full spectrum of possibilities offered by the most recent advances in medicine. Some of the most interesting aspects of the book include the discussions on patient management, those touching on the ethics of research, and the societal aspects of treating rare diseases with expensive therapy. ... Read more

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This book has been created for parents who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells parents where and how to look for information covering virtually all topics related to gaucher's disease (also Acid Beta-glucosidase Deficiency; Acute Cerebral Gaucher Disease; Cerebroside Lipidosis; cerebroside lipoidosis; Cerebrosidosis; Familial Splenic Anemia), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on gaucher's disease. Given parents' increasing sophistication in using the Internet, abundant references to reliable Internet-based resources are provided throughout this sourcebook. Where possible, guidance is provided on how to obtain free-of-charge, primary research results as well as more detailed information via the Internet. E-book and electronic versions of this sourcebook are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). Hard-copy users of this sourcebook can type cited Web addresses directly into their browsers to obtain access to the corresponding sites. In addition to extensive references accessible via the Internet, chapters include glossaries of technical or uncommon terms. ... Read more

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In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing.This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

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In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with type 3 Gaucher Disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

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In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Type 2 Gaucher Disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

Product Description
In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Gaucher disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

Product Description
In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Type 1 Gaucher Disease is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

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Lysosomal storage diseases LSDs are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when a specific organelle in the body's cells the lysosome malfunctions. Tay-Sachs disease was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882 and Fabry disease in 1898. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for intracellular digestion and recycling of macromolecules. This was the scientific breakthrough that would lead to the understanding of the physiological basis of the Lysosomal Storage Diseases. Pompe disease was the first disease to be identified as an LSD in 1963, with L. Hers reporting the cause as a deficiency of ?-glucosidase. Hers also suggested that other diseases, such as the Mucopolysaccharidosis, might be due to enzyme deficiencies. ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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Targeted to patients, their families and allied health students, The “Gale Encyclopedia of Neurological Disorders” provides in-depth coverage of neurological diseases and disorders, including stroke, multiple sclerosis, Parkinson disease, Tourette Syndrome, Alzheimer's disease, cerebral palsy, vertigo, amnesia and epilepsy. Related topics include communication aids, electric personal assistive mobility devices, medications for treating neurological diseases and conditions, understanding the needs of Alzheimer patient caregivers and more. This two-volume set provides an alternative to resources that either fail to explore neurological disease in any depth and or do so at a level not appropriate for students and general readers.

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This volume is produced from digital images created through the University of Michigan University Library's large-scale digitization efforts. The Library seeks to preserve the intellectual content of items in a manner that facilitates and promotes a variety of uses. The digital reformatting process results in an electronic version of the original text that can be both accessed online and used to create new print copies. The Library also understands and values the usefulness of print and makes reprints available to the public whenever possible. This book and hundreds of thousands of others can be found in the HathiTrust, an archive of the digitized collections of many great research libraries. For access to the University of Michigan Library's digital collections, please see http://www.lib.umich.edu and for information about the HathiTrust, please visit http://www.hathitrust.org ... Read more

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High Quality Content by WIKIPEDIA articles! Gaucher'sdisease is a genetic disease in which a fattysubstance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomalstorage diseases.:536 It is caused by a hereditarydeficiency of the enzyme glucocerebrosidase. The enzymeacts on a fatty substance glucocerebroside. When theenzyme is defective, the substance accumulates,particularly in cells of the mononuclear cell lineage.Fatty material can collect in the spleen, liver,kidneys, lungs, brain and bone marrow. ... Read more

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Chapters: Tay-Sachs Disease, Niemann-Pick Disease, Type C, Sandhoff Disease, Gaucher's Disease, Niemann-pick Disease, Fabry Disease, Krabbe Disease, Schindler Disease, Gm2 Gangliosidoses, Multiple Sulfatase Deficiency, Wolman Disease, Farber Disease, Gm1 Gangliosidoses, Gangliosidosis. Source: Wikipedia. Pages: 101. Not illustrated. Free updates online. Purchase includes a free trial membership in the publisher's book club where you can select from more than a million books without charge. Excerpt: Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant known as infantile Tay-Sachs disease, it presents a relentless deterioration of mental and physical abilities which commences at six months of age and usually results in death by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay-Sachs Disease is rare. Other autosomal disorders such as cystic fibrosis and sickle cell anemia are far more common. The disease is named after British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital, New York who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887. Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several population...More: http://booksllc.net/?id=56481 ... Read more