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Chapters: Tay-Sachs Disease, Canavan Disease, Sly Syndrome, Neuronal Ceroid Lipofuscinosis, Mucopolysaccharidosis, Niemann-Pick Disease, Type C, Sandhoff Disease, Hunter Syndrome, Glycogen Storage Disease Type Ii, Gaucher's Disease, Metachromatic Leukodystrophy, Lysosomal Storage Disease, Niemann-pick Disease, Mucolipidosis, Batten Disease, Fabry Disease, Cystinosis, Hurler Syndrome, Krabbe Disease, Alpha-Mannosidosis, Mucolipidosis Type Iv, Sanfilippo Syndrome, I-Cell Disease, Schindler Disease, Gm2 Gangliosidoses, Multiple Sulfatase Deficiency, Aspartylglucosaminuria, Wolman Disease, Salla Disease, Morquio Syndrome, Farber Disease, Sialidosis, Lipid Storage Disorder, Pycnodysostosis, Pseudo-Hurler Polydystrophy, Cholesteryl Ester Storage Disease, Gm1 Gangliosidoses, Glycoproteinosis, Galactosialidosis, Gangliosidosis. Source: Wikipedia. Pages: 228. 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 re...More: http://booksllc.net/?id=56481 ... Read more

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This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families. ... 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 batten disease (also Batten disease; Batten-Mayou Syndrome; Batten-Spielmeyer-Vogt's Disease; Batten-Vogt Syndrome; Jansky-Bielschowsky; Kufs' disease), 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 batten 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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This digital document is an article from Saturday Evening Post, published by Thomson Gale on March 1, 2006. The length of the article is 424 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Dogs help track down genes.(MEDICAL UPDATE: Cutting-edge news from a source you can trust)(Batten disease)
Publication: Saturday Evening Post (Magazine/Journal)
Date: March 1, 2006
Publisher: Thomson Gale
Volume: 278Issue: 2Page: 53(1)

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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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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.