Tay-Sachs disease
THE IMPACT OF INFANTILE AMAUROTIC FAMILIAL IDIOCY (TAY-SACHS DISEASE) ON THE FAMILY
... CONCLUSIONS AND RECOMMENDATIONS This study has dealt with the nature of the crisis confronting families with a child in whom the diagnosis of amaurotic familial idiocy (Tay-Sachs Disease[r] ...
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Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay Sachs disease
... to other, but rarer, autosomal recessive conditions. In populations with high carrier rates or significant burden of affected individuals, or both, carrier screening may be offered during preconception to all women in ...
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Tay-Sachs disease: current perspectives from Australia
... Abstract: Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one ...
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STUDIES OF RED CELL STROMAL LIPIDS IN TAY SACHS DISEASE AND OTHER LIPIDOSES
... Analysis of the lipids of red cells by means of silicic acid column chromatography in six patients with Tay-Sachs disease, in nine of the twelve healthy parents, and in one patient with [r] ...
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Studies of red cell stromal proteins in Tay Sachs disease
... from Tay-Sachs' children have been shown to contain significantly increased amounts of protein, hexosamine, threonine, and serine, and probably sialic acid, each of which was increased by approximately 25% ...
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Zygosity Diagnosis: When Physicians and DNA Disagree/Twin Research: Sex-Discordant Chimeric Twins; Unrelated Bone Marrow Transplantation in Infant Twins With Congenital Amegakaryotic Thrombocytopenia; Twin Study of Attractiveness to Mosquitoes; Twins Coping With Crisis/Media Highlights: The Less Favored Twin; Paternity Issues; Twins With Late-Onset Tay-Sachs Disease; Triplets at MIT
... Physicians and other medical professionals do not always provide new parents with an accurate diagnosis of their twins’ zygosity. An overview of this problem is presented, supplemented by an interview with a mother who ...
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Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
... Currently, there are no effective treatments for Tay-Sachs disease. The main treatment approach involves managing the symptoms of the disease [4]. Enzyme replacement therapy (ERT) is available ...
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Fructose Tolerance in Tay-Sachs' Disease
... istic of time response of patients with hereditary fructose iimtoleraimce. The hepatic fructose-i-. phosphate aldolase activity iIl Tay-Sachs’ dis-[r] ...
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THE TAY-SACHS DISEASE FIBROBLAST MODEL: FAILURE TO RESPOND TO EXOGENOUS HEXOSAMINIDASE A
... cultured cells as measured by activity against the fluorogenic substrate or intracellular radioactivity of the ‘9-labeled enzyme.. Futhermore, there was no demonstrable altera-.[r] ...
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THE FETAL ASPECTS OF TAY-SACHS DISEASE
... Information obtained from in vivo radio- isotope turnover studies have been disap- pointing and often contradictory; especially when results from nonmammalian and ro- dent species were e[r] ...
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The metabolism of Tay Sachs ganglioside: catabolic studies with lysosomal enzymes from normal and Tay Sachs brain tissue
... of Tay-Sachs disease and it is virtually absent in the O-variant ...of Tay-Sachs ganglioside in the lysosomal preparations from the control or patient with the O variant of ...
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Tay Sachs carrier screening in the genomics age: Gene sequencing versus enzyme analysis in non Jewish individuals
... Purpose: To compare the sensitivity of Hexosamini- dase A (HexA) enzyme-based testing to gene sequ- encing for carrier detection in non-Jewish individuals. Methods: Blood samples were obtained from parents and relatives ...
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Accumulation of Ganglioside GM2 in Cerebrospinal Fluid of a Patient with the Variant AB of Infantile GM2 Gangliosidosis
... This glycolipid was not detected in the CSF from normal subjects or from the patient with the classic form of Tay-Sachs disease. DISCUSSION[r] ...
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Fingerprinting of bed sediment in the Tay Estuary, Scotland: an environmental magnetism approach
... Infilling by marine-derived sediment accompanying post- glacial sea level rise, as observed in other estuaries of the North Sea (Anthony, 2000), is reflected in the modern bed sediments of the Tay Estuary. Use of ...
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Bianchi Type III and Kantowski Sachs Universes with wet Dark Fluid
... Chaubey and Chaubey et al. ([29,30]) have studied some anisotropic cosmological universes with wet dark fluid. In this paper we study the Bianchi type- III and Kantowski-Sachs Universes with matter term with dark ...
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The Acoustic Wave Equation in the Expanding Universe: Sachs-Wolfe Theorem »
... The Sachs–Wolfe theorem ([1], pp. 76–77) contains two separate results formulated for two different equations of state: the first (i, p. 76) for pressureless matter ( p = 0) and the second (ii, p. 77) for an ...
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Overview of point-of-care abdominal ultrasound in emergency and critical care
... Prospective evaluation of emergency physician performed bedside ultrasound to detect acute appendicitis.. Elikashvili I, Tay ET, Tsung JW.[r] ...
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On Kantowski Sachs Viscous Fluid Model in Bimetric Relativity
... In this paper, Kantowski-Sachs models are constructed in Rosen’s bimetric theory of gravitation when the ener- gy momentum tensor is bulk viscous fluid. Applying the conservation equation and also the equation of ...
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Outcomes of arthroscopic "Remplissage": capsulotenodesis of the engaging large Hill-Sachs lesion
... significant cause of recurrent shoulder dislocations and of arthroscopic reconstruction failure [5]. The treatment of osseous defects as part of shoulder stabilization sur- gery was recently reviewed by Bushnell et al ...
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Why We Should Have Seen That Coming
... of Tay is that it is unclear whether the takedown was a reaction to Tay's offensive tweets or a reaction to the Twittersphere objecting to the offensive ...left Tay up for as long as could and only decided ...
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