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Tay-Sachs Disease. By Jill Meltzer. Tay-Sachs Disease (TSD) ... The couple also had another daughter, Kelly, who did not have Tay-Sachs. ...
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People with Huntington's disease experience uncontrolled movements, emotional ... http://www.mayoclinic.com/health/huntingtons-disease/DS00401/DSECTION=1 ...
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'Tay-Sachs disease is a fatal genetic disease. ... with this fat, mental and physical abilities disappear, never to be regained. ...
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The condition is caused by insufficient activity of an enzyme called beta ... There is no cure or treatment to date that will prevent the disease from running ...
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PEDIGREES (12.3) *a chart that shows how a trait and the genes that control it are inherited within a family. Symbols:
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Passed from previous generations Don t have Hex- A enzyme (used for breaking down fatty substances in the brain) Autosomal recessive On chromosome 15 3 types ...
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... doencas Geralmente apenas um unico esfingolipido se acumula nos orgaos envolvidos A porcao ceramida e comum aos varios lipidos armazenados A velocidade de ...
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Progeria Syndrome Hutchinson-Gilford Progeria Syndrome or premature aging disease. Noticeable 18-24 months of age. Life expectancy 8-21 years with an average of 14 ...
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Faculdade de Medicina da Universidade de Coimbra Bioqu mica I Metabolismo dos L pidos e Doen as dos Lisossomas Rute Pereira Sabrina Magueta Sandrine Dias
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Prader-Willi Syndrome vs. Angelman s Syndrome Prader-Willi Syndrome Obesity Small hands and feet Short stature Mental retardation Do not produce the ...
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a higher incidence of consanguinity. Autosomal Recessive Inheritance ... Consanguinity -mating between individuals who share at least one common ancestor ...
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Genetic Disorders Inherited in different ways Gene mutations Autosomal / Sex-linked Dominant / recessive/ codominant Chromosomal mutations Too many- trisomy
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l. u. c. o. s. i. d. a. s. e. Comparison of TSD with Gaucher ... Carnitine deficiencies. Peroxisomal disorders. Zellweger. Adrenoleukodystrophy. Refsum disease ...
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