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https://en.wikipedia.org/wiki/Tay-Sachs_disease
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common type, known as infantile Tay–Sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over, sit, or crawl. This is then followed by seizures, hearing loss, and inability to move.
https://rarediseases.org/rare-diseases/tay-sachs-disease/
Tay-Sachs disease is broken down into the classic or infantile form, the juvenile form, and the adult or late-onset form. In individuals with infantile Tay-Sachs disease, symptoms typically first appear between three and five months of age.
https://www.ninds.nih.gov/Disorders/All-Disorders/Tay-Sachs-Disease-Information-Page
Tay-Sachs disease is an inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body.
https://kidshealth.org/en/parents/tay-sachs.html
Healthy babies develop vision, movement, hearing, and other vital functions in part because enzymes clear out fatty protein and other unwanted material that can interfere with growth. But a baby with Tay-Sachs disease is born without one of those important enzymes, hexosaminidase A (HEXA). So, as ...
http://curetay-sachs.org/
The Cure Tay-Sachs Foundation is dedicated to funding the on-going research needed to find treatments and a cure for Tay-Sachs Disease. Once the cure for Tay-Sachs has been found - and we will find it! - we will dedicate our efforts to promoting carrier-testing and Tay-Sachs awareness initiatives.
https://www.ncbi.nlm.nih.gov/books/NBK1218/
Aug 11, 2011 · Hexosaminidase A deficiency results in a group of neurodegenerative disorders caused by intralysosomal storage of the specific glycosphingolipid, GM2 ganglioside. The prototype hexosaminidase A deficiency is Tay-Sachs disease, also known as the acute infantile variant. Tay-Sachs disease is characterized by progressive weakness, loss of motor skills, decreased …
https://ghr.nlm.nih.gov/chromosome/11
Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 22 attached to a piece of chromosome 11.
https://en.wikipedia.org/wiki/Medical_genetics_of_Jews
The medical genetics of Jews is the study, screening, and treatment of genetic disorders more common in genetically-associated Jewish populations than in the population as a whole. The genetics of Ashkenazi Jews have been particularly well-studied, resulting in the discovery of many genetic disorders associated with this ethnic group.. In contrast, the medical genetics of Sephardic Jews and ...
https://medlineplus.gov/ency/article/001523.htm
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for daily living.
https://www.ninds.nih.gov/Disorders/All-Disorders/Canavan-Disease-Information-Page
Mar 27, 2019 · The gene for Canavan disease has been located. Many laboratories offer prenatal screening for this disorder to populations at risk. Scientists have developed animal models for this disease and are using the models to test potential therapeutic strategies.
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