Results 91 to 100 of about 20,780 (190)
It's what's expected: genetic testing for inherited conditions, CHERE Discussion Paper No 46 [PDF]
The development of new genetic technology brings with it responsibility for evaluating the effectiveness and efficiency of testing programs, including gaining an understanding of the value of information.
Jane Hall +2 more
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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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A single site in human β-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside [PDF]
, 2003 Human β-hexosaminidase A (Hex A) (αβ) is composed of two subunits whose primary structures are ∼60% identical. Deficiency of either subunit results in severe neurological disease due to the storage of GM2 ganglioside; Tay–Sachs disease, α deficiency, and
Abbink, E.J. +21 more
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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 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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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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Glikomimetrikumok előállítása anhidro-aldiminekből = Synthesis of glycomimetics from anhydro-aldimines [PDF]
, 2009 Célkitűzésünk potenciális glikoenzim (glikozil-transzferáz, glikozidáz vagy glikogén foszforiláz) inhibitorok előállítása volt, melyek szerepet játszhatnak a működésmód felderítésben, illetve szerepük lehet például a rák, diabetes, egyes lizoszomális ...
Vágvölgyiné dr.Tóth, Marietta
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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
doaj +1 more source
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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, 1974 One of the primary aims of the genetic counselor is the reduction in the number of children born with either lethal disorders or severe CNS dysfunction (eg. Mongolism and midline neural defects).
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