Tay-Sachs disease, screening and prevention : based on the First International Conference on Tay-Sachs Disease, Screening and Prevention, Palm Springs, California / editor, Michael M. Kaback ;ssociate editors, David L. Rimoin, John S. O'Brien.

  • International Conference on Tay-Sachs Disease: Screening and Prevention
Date:
1977
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Tay-Sachs disease, screening and prevention : based on the First International Conference on Tay-Sachs Disease, Screening and Prevention, Palm Springs, California / editor, Michael M. Kaback ;ssociate editors, David L. Rimoin, John S. O'Brien. Source: Wellcome Collection.

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    432 / Index compliance factors, 379—80 confidentiality, 305 — 14, 425, 428 Conservative Jewish view, 81—83 cost of, in Canada, 41—42, 44 economic considerations, 319—27 education of medical profession, 10 effect of genetic education on, 367-77 evaluation of programs, 429—30 false positives, 69 first (May, 1971), 4 French-Canadian, 182 generalized vs specific, 336 hexosaminidase techniques, 222-25 in Israel, 47—52 mandatory vs voluntary, 335 medications and, 69—70 methods of assay, 37—38 objectives of, 321—22 Orthodox view, 85—92 personal impact, 401—7, 409—14 psychosocial aspects, 395—99, 409-14 public health aspects, 329—37 quality control study, 267—79, 333-34 religious response to, 75—80 research, 325—26 in South Africa, 61—66 specificity and sensitivity, 239-42 tear hexosaminidase assay, 245-63 techniques, 213—18 thermal fractionation of serum hexosaminidase, 197—211 Toronto Program, 221—25 in United States, 14—20 worldwide, 20, 23—24 Genetic variants of Tay-Sachs disease, 161-84 German Jews, 112—14 Hexosaminidase, 3—4, 154—55 alteration in reaction variables, 197-211 assay technique, 222—25 deficiency in adults, 156—57 genetic variants, 147—58 immunological properties, 195—96 juvenile G]^2g^r'g'iosidosis, 156 leukocyte assays, 37—38 models, 151—54 Sandhoff's disease, 155 structural properties, 195—96 thermal fractionation of, 197-211 variant AB, 156 Hexosaminidase A (Hex A) activity, 49—52, 131 adult deficiency, 156—58 biological fluid analysis, 227—37 buffer ions, 205 deficiency, 3, 13,48, 129, 133-38, 147,197 effects of pH variation, 204 interrelationship of variables, 207 ionic strength (д), 204—5 kinetic properties, 150—51 mistaken prenatal diagnosis, 284, 286-93,295-96 North African families, 192 prenatal diagnosis, 20—23 quality control study, 267—79 relationship to hexosaminidase B, 151-54 structural properties, 148—50 tear assays, 245—63 temperature, 205—7 Hexosaminidase В (Hex B) activity, 131, 133, 137, 147 adult deficiency, 157—58 kinetic properties, 150—51