MARC Record from marc_columbia

LEADER: 04202mam a2200361 a 4500
001 4066057
005 20221027030503.0
008 010226s2001 caua b 001 0 eng d
015 $aGBA1-Z0220
020 $a0120176440 (alk. paper)
035 $a(OCoLC)ocm46393297
035 $9ATV6535HS
035 $a(NNC)4066057
035 $a4066057
040 $aUKM$cUKM$dCOU$dOCLCQ$dGAC$dNNC-M$dOrLoB-B
082 04 $a616.858845$221
090 $aRJ399.T36$bT39 2001
245 00 $aTay-Sachs disease /$cedited by Robert J. Desnick, Michael M. Kaback.
260 $aSan Diego, Calif. ;$aLondon :$bAcademic,$c2001.
300 $axx, 363 pages :$billustrations ;$c24 cm.
336 $atext$btxt$2rdacontent
337 $aunmediated$bn$2rdamedia
490 1 $aAdvances in genetics ;$vv. 44
504 $aIncludes bibliographical references and index.
505 00 $g1.$tTay-Sachs Disease: From Clinical Description to Molecular Defect /$rMichael M. Kaback and Robert J. Desnick --$g2.$tBarney Sachs and the History of the Neuropathologic Description of Tay-Sachs Disease /$rDaniel P. Perl --$g3.$tEarly Epidemiologic Studies of Tay-Sachs Disease /$rStanley M. Aronson --$g4.$tIdentification of the Accumulated Ganglioside /$rLars Svennerholm --$g5.$tDiscovery of the Hexosaminidase Isoenzymes /$rDonald Robsinson and John L. Stirling --$g6.$tTay-Sachs Disease: The Search for the Enzymatic Defect /$rRoscoe O. Brady --$g7.$tDiscovery of [beta]-Hexosaminidase A Deficiency in Tay-Sachs Disease /$rShintaro Okada and John S. O'Brien --$g8.$tThe G[subscript M2]-Gangliosidoses and the Elucidation of the [beta]-Hexosaminidase System /$rKonrad Sandhoff --$g9.$tSubunit Structure of the Hexosaminidase Isozymes /$rErnest Beutler --$g10.$tMolecular Genetic of the [beta]-Hexosaminidase Isoenzymes: An Introduction /$rEdwin H. Kolodny --
505 80 $g11.$tCloning the [beta]-Hexosaminidase Genes /$rRichard L. Proia --$g12.$tThe Search for the Genetic Lesion in Ashkenazi Jews with Classic Tay-Sachs Disease /$rRachel Myerowitz --$g13.$tThe [beta]-Hexosaminidase Story in Toronto: From Enzyme Structure to Gene Mutation /$rDon J. Mahuran and Roy A. Gravel --$g14.$tBiosynthesis of Normal and Mutant [beta]-Hexosaminidases /$rElizabeth F. Neufeld and Alessandra d'Azzo --$g15.$tRecognition and Delineation of [beta]-Hexosaminidase [alpha]-Chain Variants: a Historical and Personal Perspective /$rKunihiko Suzuki --$g16.$tLate-Onset G[subscript M2] Gangliosidosis and Other Hexosaminidase Mutations among Jews /$rRuth Navon --$g17.$tNaturally Occurring Mutations in G[subscript M2] Gangliosidosis: A Compendium /$rBarbara Triggs-Raine, Don J. Mahuran and Roy A. Gravel --$g18.$tTargeting the Hexosaminidase Genes: Mouse Models of the G[subscript M2] Gangliosidoses /$rRichard L. Proia --$g19.$tMolecular Epidemiology of Tay-Sachs Disease /$rNeil Risch --
505 80 $g20.$tScreening and Prevention in Tay-Sachs Disease: Origins, Update, and Impact /$rMichael M. Kaback --$g21.$tNot Preventing - Yet, Just Avoiding Tay-Sachs Disease /$rCharles R. Scriver --$g22.$tExperiences in Molecular-Based Prenatal Screening for Ashkenazi Jewish Genetic Diseases /$rChristine M. Eng and Robert J. Desnick --$g23.$tThe Dor Yeshorim Story: Community-Based Carrier Screening for Tay-Sachs Disease /$rJosef Ekstein and Howard Katzenstein --$g24.$tTay-Sachs Disease and Preimplantation Genetic Diagnosis /$rChristoph Hansis and Jamie Grifo --$g25.$tTreatment of G[subscript M2] Gangliosidosis: Past Experiences, Implications, and Future Prospects /$rMario C. Rattazzi and Kostantin Dobrenis --$g26.$tTay-Sachs Disease: Psychologic Care of Carriers and Affected Families /$rLeslie Schweitzer-Miller --$g27.$tFuture Perspectives for Tay-Sachs Disease /$rRobert J. Desnick and Michael M. Kaback.
650 0 $aTay-Sachs disease.$0http://id.loc.gov/authorities/subjects/sh85132905
650 2 $aTay-Sachs Disease.$0https://id.nlm.nih.gov/mesh/D013661
700 1 $aDesnick, Robert J.$0http://id.loc.gov/authorities/names/n80015939
700 1 $aKaback, Michael M.$0http://id.loc.gov/authorities/names/n80160348
830 0 $aAdvances in genetics ;$vv. 44.$0http://id.loc.gov/authorities/names/no98109310
852 80 $boff,hsr$hSerial$iA