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Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader. ... Read more

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Joe’s story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old. This story allows children to join Joe on his journey through diagnosis and treatment of his disease. ... 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 Fabry 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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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 fabry's disease (also Alpha-Galactosidase A Deficiency; Anderson-Fabry Disease; angiokeratoma corporis diffusum; Angiokeratoma Diffuse; Ceramide Trihexosidase Deficiency; ceramide trihexoside lipoidosis), 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 fabry'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

Customer Reviews (2)

A little outdated and not very informative
This book is outdated since many of the links are wrong and there are new treatments approved since publishing. It also doesn't really talk that much about the disease itself. The Fabry's support webpage is much more informative than this book. I recommend you save your money. Perhaps when an update is published it will be worth it again.

Good Start, but left some things out
...The book identifies only government research and does not specifically identify industry researchers TKT & Genzyme.

The treatment section needs updated.TKT has produced and enzyme replacemnt therapy--Replagal and Genzyme has produced an enzyme replacement therapy--Fabrazyme.Both are approved by many European countries.Fabrazyme was approved in the US by the FDA on April 24, 2003. ... Read more

Product Description
This digital document is an article from Family Practice News, published by International Medical News Group on October 15, 2004. The length of the article is 473 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: Fabry's disease database will facilitate diagnosis.(Clinical Rounds)
Author: Nancy Walsh
Publication: Family Practice News (Magazine/Journal)
Date: October 15, 2004
Publisher: International Medical News Group
Volume: 34Issue: 20Page: 68(1)

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This digital document is an article from Southern Medical Journal, published by Southern Medical Association on February 1, 2003. The length of the article is 1043 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: First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease. (Case Report).
Author: Arnon Blum
Publication: Southern Medical Journal (Refereed)
Date: February 1, 2003
Publisher: Southern Medical Association
Volume: 96Issue: 2Page: 212(2)

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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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This digital document is an article from Family Practice News, published by International Medical News Group on March 1, 2001. The length of the article is 605 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: Enzyme Replacement Resolves Fabry Disease.(Brief Article)
Author: Mitchel L. Zoler
Publication: Family Practice News (Magazine/Journal)
Date: March 1, 2001
Publisher: International Medical News Group
Volume: 31Issue: 5Page: 7

Article Type: Brief Article

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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 digital document is an article from JCN Newswires, published by Thomson Gale on February 15, 2007. The length of the article is 547 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: Dainippon Sumitomo Pharma Announces Launch of "Replagal(R) 3.5 mg" for Anderson-Fabry Disease.
Author: Gale Reference Team
Publication: JCN Newswires (Magazine/Journal)
Date: February 15, 2007
Publisher: Thomson Gale
Page: NA

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This digital document is an article from BIOTECH Patent News, published by Biotech Patent News on July 1, 2000. The length of the article is 718 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: Genzyme receives broad patent covering gene therapy for Fabry disease.(Brief Article)(Statistical Data Included)
Publication: BIOTECH Patent News (Newsletter)
Date: July 1, 2000
Publisher: Biotech Patent News
Volume: 14Issue: 7Page: NA

Article Type: Brief Article, Statistical Data Included

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This digital document is an article from Skin & Allergy News, published by International Medical News Group on January 1, 2005. The length of the article is 493 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: European database providing information on fabry's disease.(Clinical Rounds)
Author: Nancy Walsh
Publication: Skin & Allergy News (Magazine/Journal)
Date: January 1, 2005
Publisher: International Medical News Group
Volume: 36Issue: 1Page: 28(1)

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This digital document is an article from Pediatric News, published by International Medical News Group on February 1, 2003. The length of the article is 1045 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: Six diagnostic possibilities for painful, red feet. (Different Treatment Options).
Author: Betsy Bates
Publication: Pediatric News (Magazine/Journal)
Date: February 1, 2003
Publisher: International Medical News Group
Volume: 37Issue: 2Page: 27(1)

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Avoiding hard-to-understand medical jargon, the four-volume “Gale Encyclopedia of Children’s Health” uses language that parents can understand, while still providing enough depth to benefit today's health science students. The set provides in-depth coverage of pediatric diseases and disorders, along with issues related to physical and cognitive/behavioral development.

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Issue includes articles on Psychiatric Disorders in Clinical Genetics I: Addressing Family Histories of Psychiatric Illness/ Psychiatric Disorders in Clinical Genetics II: Individualizing Recurrence Risks/ How Risk is Perceived, Constructed and Interpreted by Clients in Clinical Genetics and the Effects on Decision Making: Systematic Review/ Are You at Risk for Hereditary Breast Cancer?": Development of a Personal Risk Assessment Tool for Hereditary Breast and Ovarian Cancer/ Diagnosis of Fabry Disease via Analysis of Family History/ Emotional Reaction to Fragil X Premutation Carrier Tests Among Infertile Women/ Family-based Detection for Hereditary Hemochromatosis/ Culture and Acculturation Influences on Palestinian Perceptions of Prenatal Genetic Counseling; Living at Risk: Concealing Risk and Preserving Hope in Huntington Disease/ Ethnic Difference in Parental Perceptions of Genetic Testing for Deaf Infants ... Read more

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The article is excerpted fromGale Encyclopedia of Medicine.

Consultthe second edition of this authoritative, comprehensive, in-depthmedical guide for information on more than 1,700 medical topics inlanguage accessible to adult laypersons. Presented in a singlealphabetical sequence, articles range in length from one or twoparagraphs for minor topics, to several pages or more for major topics.Disease/disorder articles typically cover definition; description;causes and symptoms; diagnosis; treatments; prevention; and more.Test/treatment articles typically cover definition; purposes;precautions; preparation; risks; normal and abnormal results; and muchmore. This second edition includes more than 200 new entries, 300updated entries, approximately 650 color images and illustrations, anda comprehensive subject index. New features include biographical andhistorical sidebars throughout the text.

Disease/disorder articles contain some or all of the following sections:

• Definitions -- brief dictionary-style definition of the disorder
• Descriptions -- overview of the disorder; who gets it and why
• Causes & symptoms -- process, substance or organism thatproduces the condition; any risk factors that increase susceptibilityto the condition; signs and symptoms of the disease
• Diagnosis -- overview of procedures and tests used todiagnose the condition; how the test is done; who should be tested andwhen; time required; cost; whether it's typically covered by insurance
• Treatments -- overview of conventional methods of care ormanagement of the condition, such as drugs, surgeries, physicaltherapy, etc.
• Alternative treatments -- overview of alternative/complementary therapies that may be used to treat the condition
• Prognosis -- probable outcome of the disease
• Preventions -- what actions can be taken to prevent the condition from occurring

Test/treatment articles contain some or all of the following sections:

• Definitions -- brief dictionary-style definition of the test/treatment
• Purposes -- why and when this test/treatment is prescribed
• Precautions -- when this test/treatment should not be prescribed
• Descriptions -- overview of the test/treatment including cost,length of time required, procedures followed, whether typically coveredby insurance
• Preparation -- pre-test treatment procedures, if any
• Aftercare -- post-test treatment procedures, if any
• Risks -- any complications/side effects commonly associated with the test/treatment
• Normal results -- for tests, describes the normal values; for treatments, describes the anticipated outcomes
• Abnormal results -- defines abnormal test values

Published/Released: December 2001

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This digital document is an article from Gale Encyclopedia of Medicine, 3rd ed., brought to you by Gale®, a part of Cengage Learning, a world leader in e-research and educational publishing for libraries, schools and businesses.The length of the article is 1961 words.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.The third edition of this authoritative, comprehensive, in-depth medical guide features information on medical topics in language accessible to adult laypersons. Disease/disorder articles typically cover definition; description; causes and symptoms; diagnosis; treatments; prevention; and more. Test/treatment articles typically cover definition; purposes; precautions; preparation; risks; normal and abnormal results; and much more. ... Read more

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Whether You're A Newly Diagnosed Patient, A Friend Or Relative Of Someone With Hepatitis C, This Book Offers Help. Written By Two Physicians From Lahey Clinic, Dr. Fabry And Dr. Narasimhan, This Book Provides Authoritative, Practical Answers To The Most Common Questions About Hepatitis C. ... Read more