单词 TAY-SACHS DISEASE的词源
Named after W. Tay (1843–1927), British physician, and B. Sachs (1858–1944), US neurologist.
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Tay-Sachs disease的用法。与
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Tay-Sachs disease is a rare, hereditary disease that affects young children, primarily Ashkenazi Jews, French Canadians, and other isolated or self-selecting populations.
They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.
Describes the history and causes of Tay-Sachs disease, and discusses the special needs and complications that can arise.
4
NORD Guide to Rare Disorders
DEFINITION: Tay-Sachs disease (TSD) is a progressive, neurodegenerative
disorder that results from a genetically determined deficiency of the enzyme
hexosaminidase that causes the accumulation of GM2-ganglioside and/or other
complex ...
National Organization for Rare Disorders, 2003
5
Neurogenetics: Methods and Protocols
Introduction Tay-Sachs disease is a severe, neurodegenerative disease fatal in
childhood that is caused by deficiency of the enzyme β-hexosaminidase A (Hex A
) (1). Tay-Sachs is most common in the Ashkenazi Jewish population, with an ...
6
The Troubled Dream of Genetic Medicine: Ethnicity and ...
In this captivating account, historians Keith Wailoo and Stephen Pemberton reveal how these diseases—fraught with ethnic and racial meanings for many Americans—became objects of biological fascination and crucibles of social debate.
Keith Wailoo, Stephen Pemberton, 2008
the first child born to the couple died of Tay-Sachs disease. These parents have
often accepted the 25 percent risk of having another affected child, only to be
distressed that the second child displayed the disease. Unfortunately, then, in this
...
Erminio Peter Volpe, 1984
8
Inborn Metabolic Diseases: Diagnosis and Treatment
In Tay-Sachs disease (affecting the subunit), hexosaminidase A only is deficient.
In Sandhoff disease (affecting the -subunit) both hexosaminidases are
inactivated. In GM2-activator deficiency, the substrate is not made available to the
...
John Fernandes, Jean-Marie Saudubray, Georges van den Berghe, 2006
9
The Still Point of the Turning World
An immediate bestseller, The Still Point of the Turning World is Rapp’s memorial to her lost son and an inspiring and exquisitely moving reminder to love and live in the moment.
10
Epilepsy A to Z: A Concise Encyclopedia:Second Edition
Tay-Sachs disease is an autosomal recessive disorder localized to chromosome
15 (15q23-q24) that causes a genetically mediated deficit of N-acetyl-
betahexosaminidase activity. It has also been referred to as GM2 gangliosidosis
due to the ...
Pierre Jallon MD, Peter W. Kaplan MB, FRCP, William O. Tatum, 2009
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Your Health: Clanton boy the only Alabama child battling rare Tay …
Against many complications of a disease that progressively destroys nerve cells in his brain ... Typically, children with Tay-Sachs disease live two to five years. «Alabama's News Leader, 七月 15»
Daughter's Tay-Sachs disease didn't stop two dads from reaching for …
Krystie suffered and died from a rare disease, Tay-Sachs, but her life was by no means tragic. She traveled the country, from California beaches to the trading ... «Minneapolis Star Tribune, 六月 15»
Well | Think Like a Doctor: Taking a Stand Solved
Tay-Sachs disease was first identified by two physicians, independently, in the 1880s. Dr. Warren Tay was an ophthalmologist in London. Dr. Bernard Sachs ... «New York Times, 五月 15»
'This disease takes away everything': One family's story of Tay-Sachs
The first clue that something might be wrong with Cameron was, oddly enough, a diagnosis of Tay-Sachs disease in her cousin. Cameron had just received a ... «Boston Business Journal, 二月 15»
Tay-Sachs and the Irish Community
They were diagnosed with Tay-Sachs disease at the Children's Hospital of Philadelphia—27 years apart. The time in between has been filled with advances in ... «Mainline Today, 二月 15»
Hilton Head mother fundraises for Tay-Sachs cure
Alexis and Bill Buryk, parents of Katie and Allie Buryk who were diagnosed with late onset Tay-Sachs disease at the end of 2014, talk about finding out about ... «Hilton Head Island Packet, 二月 15»
Fair will offer genetic testing and disease information
The samples found Michelle, 30, was a carrier of Maple Syrup Urine Disease. ... Dana Zimmerman wanted to know: Was she a carrier of Tay-Sachs disease? «Sun Sentinel, 一月 15»
Southern Lehigh students hope to spread Tay-Sachs disease …
There is no cure for Tay-Sachs, which can strike during infancy, early childhood and adolescence or early adulthood. The disease causes progressive ... «lehighvalleylive.com, 十一月 14»
1000 New York Irish to get tested for Tay Sachs disease gene
On September 7, Tay-Sachs disease researchers from Einstein Medical Center in Philadelphia are coming to New York to conduct a study that will determine the ... «IrishCentral, 八月 14»
Tay-Sachs screening urged for the Irish
Genetic screening in the Jewish community has been so successful that the number of babies born with Tay-Sachs disease has plummeted and attention is now ... «The Journal News | LoHud.com, 八月 14»
