Tay-Sachs disease: a case report
The Turkish Journal of Pediatrics, 1995 Tay-Sachs disease (GM2 gangliosidosis I) is an autosomal recessive lysosomal-storage disorder confined to the central nervous system, resulting from deficiency of hexosaminidase A.
A E Arisoy, S Ozden, G Ciliv, I Ozalp
doaj
Spartan Daily, March 24, 1980 [PDF]
, 1980 Volume 74, Issue 37https://scholarworks.sjsu.edu/spartandaily/6604/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
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Moral wrongs, disadvantages, and disability: a critique of critical disability studies [PDF]
, 2014 Critical disability studies (CDS) has emerged as an approach to the study of disability over the last decade or so and has sought to present a challenge to the predominantly materialist line found in the more conventional disability studies approaches ...
Campbell F. K. +24 more
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Animal models of GM2 gangliosidosis: utility and limitations
The Application of Clinical Genetics, 2016 Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
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Conditional expression of human β-hexosaminidase in the neurons of Sandhoff disease rescues mice from neurodegeneration but not neuroinflammation [PDF]
, 2012 This study evaluated whether GM(2) ganglioside storage is necessary for neurodegeneration and neuroinflammation by performing β-hexosaminidase rescue experiments in neurons of HexB(−/−) mice.
Jen-nie H Miller +5 more
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Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient
Stem Cell Research, 2016 Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele.
Zhong Liu, Rui Zhao
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The Demography of Devotion: Comparing Amish and Hasidic Jewish Religious Responses to Genetic Diseases [PDF]
, 2009 Minority religious groups in the United States have had an influential role in shaping American culture, thanks to the fact that America has long been a safe haven for many whose religious ideals brought them intense persecution in their countries of ...
Nadel, Andrea
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Spartan Daily, March 29, 1978 [PDF]
, 1978 Volume 70, Issue 34https://scholarworks.sjsu.edu/spartandaily/6325/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
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An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis
Journal of Pediatric Research, 2018 Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis.Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine,
Esra Er +6 more
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Pleiotropy as the Mechanism for Evolving Novelty: Same Signal, Different Result. [PDF]
, 2015 In contrast to the probabilistic way of thinking about pleiotropy as the random expression of a single gene that generates two or more distinct phenotypic traits, it is actually a deterministic consequence of the evolution of complex physiology from the ...
Torday, John S
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