tay- sachs disease tay- sachs disease by: kelsey aubart

Tay- Sachs Disease By: Kelsey Aubart

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Tay-Sachs

Disease

By: Kelsey Aubart

What is Tay-Sachs

Disease that affects 16 infants each year

Mutated Tay-Sachs gene Hexo-A enzyme

Page 3: Tay- Sachs Disease Tay- Sachs Disease By: Kelsey Aubart

Percentage of getting Tay-Sachs

Page 4: Tay- Sachs Disease Tay- Sachs Disease By: Kelsey Aubart

Symptoms

Normal infancy for 3-4 months

Mental abilities deteriorate Sight Hearing

Startle response

Physical abilities deteriorate Walking, crawling Swallowing Talking Facial gestures

Page 5: Tay- Sachs Disease Tay- Sachs Disease By: Kelsey Aubart

Cures/Treatments

No cures

Replacement therapy

Medication Anticonvulsants Spasticity medicine Pain relief

Page 6: Tay- Sachs Disease Tay- Sachs Disease By: Kelsey Aubart

Tay Sachs Video

http://www.youtube.com/watch?v=ufEXHKqKDXk

CrystallographicStructureofHuman -Hexosaminidase A ...mcfuser/2006... · Keywords: lysosomal storage disorders; b-hexoasaminidase A; GM2 *Corresponding author ganglioside; Tay-Sachs

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TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT …adc.bmj.com/content/archdischild/39/208/634.full.pdf · arch. dis. childh., 1964, 39, 634. tay-sachs disease with visceral involvement

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Tay Sachs Disease - .wiki · What is Tay Sachs? Rare genetic disorder Deletion of Hex A enzyme Destroys the nervous system in a progressive manner (GHR, 2012) SIGNS & SYMPTOMS What

Carrier detection for Tay-Sachs disease - arup.utah.eduarup.utah.edu/media/taySachs/TaySacks_DeBiase.pdf · Carrier detection for Tay-Sachs disease: a model for genetic disease prevention

Effective gene therapy in an authentic model of Tay-Sachs ... · Effective gene therapy in an authentic model of Tay-Sachs-related diseases M. Begon˜a Cacho ´n-Gonzalez*, Susan

Semiologie epileptischer Anfälle · 2018-12-18 · Akut symptomatisch plus reduzierte ... Tay-Sachs – provozierbare Myoklonien . Anfallssemiologie – Säuglinge ... infantil Spasmen

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1. (12.1)(Condi0onal(Probability( 2. (12.2)(Independence( · Example(12.1((Tay]Sachs(Disease)(• Tay]Sachs(disease(is(aserious(disorder(of(the(nervous(system(thatusually(results(in(death(by(age(2(or(3.(Aﬀected

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MOLECULAR MECHANISMS OF TAY SACHS DISEASE: · PDF fileAbstract The objective is to investigate the molecular mechanisms leading to neurodegeneration in Tay Sachs disease, a lysosomal

TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT AND ITS ... · TAY-SACHS DISEASE ANDGARGOYLISM FIG. 6.-Psaamen: gla fibrils surround the swotlen nerve cell. (HoIZr.-267). andtherewasmarkedcongestion.Manyofthelivercells

Tay-Sachs' Sandhoffs Diseases: TheAssignment ofGenes A ... · Tay-Sachs' andSandhoff's Diseases 265 TABLE2. Hexosaminidase activity inhuman-mouse hybridclones Hexosaminidase activity

Tay-Sachs Disease BY: MADISON SHUMATE. What is Tay-Sachs disease ? Tay-Sachs disease, most commonly found in children, is a fatal autosomal recessive

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TAY SACHS Application Note€¦ · TAY SACHS Disease (TSD) is a genetic neurodegenerative lysosomal storage disorder. TSD is fatal in its most common variant known as Infantile Tay-Sachs