000			04819cam a2200649La 4500
001			ocm81487479
003			OCoLC
005			20141103172209.0
006			m o d
007			cr cnu---uuuuu
008			010226s2001 caua ob 001 0 eng d
040			_aCtY-M _beng _epn _cYUS _dN$T _dYDXCP _dIDEBK _dE7B _dOCLCQ _dMERUC _dOPELS _dOCLCQ _dOPELS _dOCLCF _dOCLCQ
019			_a154724658 _a648303125 _a823826826 _a823895725 _a824088367 _a824134800
020			_a9780080490304 (electronic bk.)
020			_a0080490301 (electronic bk.)
020			_a0120176440 (electronic bk.)
020			_a9780120176441 (electronic bk.)
020			_a1281004766
020			_a9781281004765
029	1		_aDEBSZ _b405292929
035			_a(OCoLC)81487479 _z(OCoLC)154724658 _z(OCoLC)648303125 _z(OCoLC)823826826 _z(OCoLC)823895725 _z(OCoLC)824088367 _z(OCoLC)824134800
050		4	_aRJ399.T36 _bT39 2001
060		4	_aW1 _bAD615 v.44 2001
060		4	_aWD 205.5.L5 _bT236 2001
070			_a443 _b.D39 v. 44
072		7	_aPSY _x018000 _2bisacsh
072		7	_aPSAK _2bicssc
082	0	4	_a616.858845 _222
049			_aTEFA
245	0	0	_aTay-Sachs disease _h[electronic resource] / _cedited by Robert J. Desnick, Michael M. Kaback.
260			_aSan Diego, Calif. ; _aLondon : _bAcademic, _c2001.
300			_a1 online resource (xx, 363 pages) : _billustrations.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
490	1		_aAdvances in genetics ; _vv. 44
550			_aMade available through: Science Direct.
504			_aIncludes bibliographical references and index.
505	0		_aTay-Sachs Disease: From Clinical Description to Molecular Defect -- Barney Sachs and The History of the Neuropathologic Description of Tay-Sachs Disease -- Early Epidemiologic Studies of Tay-Sachs Disease -- Identification of the Accumulated Ganglioside -- Discovery of the Hexosaminidase Isoenzymes -- Tay-Sachs Disease: The Search for the Enzymatic Defect -- Discovery of [beta]-Hexosaminidase a Deficiency in Tay-Sachs Disease -- The GM2-gangliosidoses and the elucidation of the [beta]-hexosaminidase system -- Subunit structure of hte hexosaminidase isozymes -- Molecular genetics of the [beta]xosaminidase isoenzymes: An introduction -- Cloning the [beta]-hexosaminidase genes -- The search for the genetic lesion in Ashkenazi Jews with classic Tay-Sachs disease -- The [beta]-hexosaminidase story in Toronto: From enzyme structure to gene mutation -- Biosynthesis of normal and mutant [beta]-hexosaminidases -- Recognition and delineation of [beta]-hexosaminidase [alpha]-chain variants: A historical and personal perspective -- Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews -- Naturally occurring mutations in GM2 gangliosidosis: A compendium -- Targeting the hexosaminidase genes: Mouse models of the GM2 gangliosidoses -- Molecular epidemiology of Tay-Sachs disease -- Screening and prevention in Tay-Sachs disease: Origins, update, and impact -- Not preventing--yet, just avoiding Tay-Sachs disease -- Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases -- The Dor Yeshorim story: Community-based carrier screening for Tay-Sachs disease -- Tay-Sachs disease and preimplantation genetic diagnosis -- Treatment of GM2 gangliosidosis: Past experiences, implications, and future prospects -- Tay-Sachs disease: Psychologic care of carriers and affected families -- Future perspectives for Tay-Sachs disease.
520			_aTay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs.
650		0	_aTay-Sachs disease.
650		2	_aTay-Sachs Disease.
650		7	_aPSYCHOLOGY _xMental Illness. _2bisacsh
650		7	_aTay-Sachs disease. _2fast _0(OCoLC)fst01144095
655		4	_aElectronic books.
700	1		_aDesnick, Robert J.
700	1		_aKaback, Michael M. _q(Michael Melvin)
776	0	8	_iPrint version: _tTay-Sachs disease (print) _w(OCoLC)46393297
830		0	_aAdvances in genetics ; _vv. 44.
856	4	0	_3ScienceDirect _uhttp://www.sciencedirect.com/science/book/9780120176441
938			_aebrary _bEBRY _nebr10186341
938			_aEBSCOhost _bEBSC _n194946
938			_aYBP Library Services _bYANK _n2586346
938			_aIngram Digital eBook Collection _bIDEB _n100476
942			_cEB
994			_aC0 _bTEF
999			_c20795 _d20795