메뉴 건너뛰기




Volumn 90, Issue 4, 2007, Pages 353-357

Prevention of lysosomal storage disorders in Israel

Author keywords

Lysosomal storage disorders; Population screening; Prevention program

Indexed keywords

CLINICAL GENETICS; CONSANGUINITY; ETHNIC GROUP; FAMILY PLANNING; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEALTH CARE NEED; HEALTH PROGRAM; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; ISRAEL; LYSOSOME STORAGE DISEASE; MARRIAGE; MASS SCREENING; MEDICAL EXAMINATION; MEDICAL SPECIALIST; NON PROFIT ORGANIZATION; PRENATAL DIAGNOSIS; PREVENTIVE MEDICINE; PRIORITY JOURNAL; PROGENY; REVIEW;

EID: 33947573900     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.11.001     Document Type: Review
Times cited : (18)

References (38)
  • 1
    • 29944446211 scopus 로고    scopus 로고
    • Lysosomal storage disorders: pathological mechanisms and therapeutic options
    • Futerman A.H. Lysosomal storage disorders: pathological mechanisms and therapeutic options. Med. Sci. 21 (2005) 16-19
    • (2005) Med. Sci. , vol.21 , pp. 16-19
    • Futerman, A.H.1
  • 2
    • 33646714143 scopus 로고    scopus 로고
    • Lysosomal dysfuction, cellular pathology and clinical symptoms: basic principals
    • Reuser A.J., and Drost M.R. Lysosomal dysfuction, cellular pathology and clinical symptoms: basic principals. Acta Paediatr. 95 (2006) 77-82
    • (2006) Acta Paediatr. , vol.95 , pp. 77-82
    • Reuser, A.J.1    Drost, M.R.2
  • 3
    • 33947593128 scopus 로고    scopus 로고
    • Status of lysosomal diseases among metabolic diseases
    • Saudubray J.M. Status of lysosomal diseases among metabolic diseases. Rev. Med. Int. 27 (2006) 511-513
    • (2006) Rev. Med. Int. , vol.27 , pp. 511-513
    • Saudubray, J.M.1
  • 4
    • 33646706363 scopus 로고    scopus 로고
    • Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage disorders
    • Gieselmann V. Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage disorders. Acta Paediatr. 95 (2006) 93-99
    • (2006) Acta Paediatr. , vol.95 , pp. 93-99
    • Gieselmann, V.1
  • 5
    • 33745293617 scopus 로고    scopus 로고
    • Therapeutic strategies to ameliorate lysosomal storage disorders-A focus on Gaucher disease
    • Sawkar A.R., D'Haeze W., and Kelly J.W. Therapeutic strategies to ameliorate lysosomal storage disorders-A focus on Gaucher disease. Cell. Mol. Life Sci. 63 (2006) 1179-1192
    • (2006) Cell. Mol. Life Sci. , vol.63 , pp. 1179-1192
    • Sawkar, A.R.1    D'Haeze, W.2    Kelly, J.W.3
  • 6
    • 32944476769 scopus 로고    scopus 로고
    • Enzyme replacement for lysosomal diseases
    • Brady R.O. Enzyme replacement for lysosomal diseases. Annu. Rev. Med. 57 (2006) 283-296
    • (2006) Annu. Rev. Med. , vol.57 , pp. 283-296
    • Brady, R.O.1
  • 7
    • 22144442824 scopus 로고    scopus 로고
    • Mixed donor and low iduronidase expression may be adequate for neurodevelopmental protection in Hurler syndrome
    • Conway J., Dyack S., Crooks B.N., and Fernandez C.V. Mixed donor and low iduronidase expression may be adequate for neurodevelopmental protection in Hurler syndrome. J. Pediatr. 147 (2005) 106-108
    • (2005) J. Pediatr. , vol.147 , pp. 106-108
    • Conway, J.1    Dyack, S.2    Crooks, B.N.3    Fernandez, C.V.4
  • 9
    • 33645861655 scopus 로고    scopus 로고
    • Gene therapy for lysosomal storage disease
    • Sands M.S., and Davidson B.L. Gene therapy for lysosomal storage disease. Mol. Ther. 13 (2006) 839-849
    • (2006) Mol. Ther. , vol.13 , pp. 839-849
    • Sands, M.S.1    Davidson, B.L.2
  • 10
    • 26644436945 scopus 로고    scopus 로고
    • Gene therapy of storage disorders by retroviral vectors
    • Biffi A., and Naldini L. Gene therapy of storage disorders by retroviral vectors. Hum. Gene Ther. 16 (2005) 1133-1142
    • (2005) Hum. Gene Ther. , vol.16 , pp. 1133-1142
    • Biffi, A.1    Naldini, L.2
  • 11
    • 33645071059 scopus 로고    scopus 로고
    • Miglustat substrate reduction therapy for glycosphingolipid lysosomal storage disorders
    • Lachmann R.H. Miglustat substrate reduction therapy for glycosphingolipid lysosomal storage disorders. Drugs Today 42 (2006) 29-38
    • (2006) Drugs Today , vol.42 , pp. 29-38
    • Lachmann, R.H.1
  • 13
    • 33745097202 scopus 로고    scopus 로고
    • Limitations of enzyme replacement therapy: current and future
    • Wraith J.E. Limitations of enzyme replacement therapy: current and future. J. Inherit. Metab. Dis. 29 (2006) 442-447
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 442-447
    • Wraith, J.E.1
  • 14
    • 0031409995 scopus 로고    scopus 로고
    • Delivering genetic screening to the community
    • Modell B. Delivering genetic screening to the community. Ann. Med. 29 (1997) 591-599
    • (1997) Ann. Med. , vol.29 , pp. 591-599
    • Modell, B.1
  • 15
    • 0141676055 scopus 로고    scopus 로고
    • Carrier testing for autosomal recessive disdorders
    • Vallance H., and Ford J. Carrier testing for autosomal recessive disdorders. Crit. Rev. Clin. Lab. Sci. 40 (2003) 473-497
    • (2003) Crit. Rev. Clin. Lab. Sci. , vol.40 , pp. 473-497
    • Vallance, H.1    Ford, J.2
  • 16
    • 0017753428 scopus 로고
    • Tay Sachs disease: heterozygote screening and prenatal disagnosis, U.S. and world perspective
    • Kabake M.M. (Ed), Alan R. Liss Inc., New York
    • Kaback M.M., Nathan T.J., and Greenwald S. Tay Sachs disease: heterozygote screening and prenatal disagnosis, U.S. and world perspective. In: Kabake M.M. (Ed). Tay Sachs screening and prevention (1977), Alan R. Liss Inc., New York 13-36
    • (1977) Tay Sachs screening and prevention , pp. 13-36
    • Kaback, M.M.1    Nathan, T.J.2    Greenwald, S.3
  • 17
    • 0035233041 scopus 로고    scopus 로고
    • Screening and prevention in Tay Sachs disease: origins, update and impact
    • Kaback M.M. Screening and prevention in Tay Sachs disease: origins, update and impact. Adv. Genet. 44 (2001) 253-265
    • (2001) Adv. Genet. , vol.44 , pp. 253-265
    • Kaback, M.M.1
  • 18
    • 33947576350 scopus 로고    scopus 로고
    • Statistical Abstracts of Israel, 2005. Central Bureau of Statistics, Israel Government, 2006.
  • 19
    • 3242691683 scopus 로고    scopus 로고
    • Association of parental consanguinity with congenital malformations among Arab new born in Jerusalem
    • Bromiker R., Glam-Baruch M., Gofin R., Hammerman C., and Amitai Y. Association of parental consanguinity with congenital malformations among Arab new born in Jerusalem. Clin. Genet. 66 (2004) 63-64
    • (2004) Clin. Genet. , vol.66 , pp. 63-64
    • Bromiker, R.1    Glam-Baruch, M.2    Gofin, R.3    Hammerman, C.4    Amitai, Y.5
  • 20
    • 0026657630 scopus 로고
    • Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community
    • Jaber L., Merlob P., Bu X., Rotter J.I., and Shohat M. Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community. Am. J. Med. Genet. 44 (1992) 1-6
    • (1992) Am. J. Med. Genet. , vol.44 , pp. 1-6
    • Jaber, L.1    Merlob, P.2    Bu, X.3    Rotter, J.I.4    Shohat, M.5
  • 21
    • 0035984454 scopus 로고    scopus 로고
    • Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze
    • Vardi-Saliternik R., Friedlender Y., and Cohen T. Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze. Ann. Hum. Biol. 29 (2002) 422-431
    • (2002) Ann. Hum. Biol. , vol.29 , pp. 422-431
    • Vardi-Saliternik, R.1    Friedlender, Y.2    Cohen, T.3
  • 23
    • 1342324899 scopus 로고    scopus 로고
    • Population genetic screening programmes: principles, techniques, practices and policies
    • Godard B., Ten Kate L., Evers-Kiebooms G., and Ayme S. Population genetic screening programmes: principles, techniques, practices and policies. Eur. J. Hum. Genet. 11 (2003) S49-S87
    • (2003) Eur. J. Hum. Genet. , vol.11
    • Godard, B.1    Ten Kate, L.2    Evers-Kiebooms, G.3    Ayme, S.4
  • 24
    • 0027268414 scopus 로고
    • Screening for Tay Sachs disease in the ultra-orthodox Ashkeanzi Jewish Community in Israel
    • Broide E., Zeigler M., Ekstein J., and Bach G. Screening for Tay Sachs disease in the ultra-orthodox Ashkeanzi Jewish Community in Israel. Am. J. Med. Genet. 47 (1993) 213-215
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 213-215
    • Broide, E.1    Zeigler, M.2    Ekstein, J.3    Bach, G.4
  • 25
    • 0035236420 scopus 로고    scopus 로고
    • The Dor Yeshorim story: community-based carrier screening for Tay Sachs disease
    • Ekstein J., and Katzenstein H. The Dor Yeshorim story: community-based carrier screening for Tay Sachs disease. Adv. Genet. 44 (2001) 297-310
    • (2001) Adv. Genet. , vol.44 , pp. 297-310
    • Ekstein, J.1    Katzenstein, H.2
  • 26
    • 0034058539 scopus 로고    scopus 로고
    • Molecular basis of Mendelian disorders among Jews
    • Zlotogora J., Bach G., and Munnich A. Molecular basis of Mendelian disorders among Jews. Mol. Genet. Metab. 69 (2000) 169-180
    • (2000) Mol. Genet. Metab. , vol.69 , pp. 169-180
    • Zlotogora, J.1    Bach, G.2    Munnich, A.3
  • 27
    • 2642528704 scopus 로고    scopus 로고
    • Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory
    • Strom C.M., Crossley B., Redman J.B., Quan F., Buller A., McGinniss M.J., and Sun W. Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet. Med. 6 (2004) 145-152
    • (2004) Genet. Med. , vol.6 , pp. 145-152
    • Strom, C.M.1    Crossley, B.2    Redman, J.B.3    Quan, F.4    Buller, A.5    McGinniss, M.J.6    Sun, W.7
  • 28
    • 0015762861 scopus 로고
    • A screening program for Tay Sachs Disease in Israel
    • Padeh B. A screening program for Tay Sachs Disease in Israel. Isr. J. Med. Sci. 9 (1973) 1330-1334
    • (1973) Isr. J. Med. Sci. , vol.9 , pp. 1330-1334
    • Padeh, B.1
  • 29
    • 0035866030 scopus 로고    scopus 로고
    • Tay Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure
    • Bach G., Tomczak J., Risch N., and Ekstein J. Tay Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. Am. J. Med. Genet. 99 (2001) 70-75
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 70-75
    • Bach, G.1    Tomczak, J.2    Risch, N.3    Ekstein, J.4
  • 30
    • 0033818681 scopus 로고    scopus 로고
    • Screening for genetic disorders among Jews: how should the Tay Sachs screening program be continued
    • Zlotogora J., and Leventhal A. Screening for genetic disorders among Jews: how should the Tay Sachs screening program be continued. Isr. J. Med. Assoc. J. 2 (2000) 665-667
    • (2000) Isr. J. Med. Assoc. J. , vol.2 , pp. 665-667
    • Zlotogora, J.1    Leventhal, A.2
  • 31
    • 0037385394 scopus 로고    scopus 로고
    • Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
    • Risch N., Tang H., Katzenstein H., and Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am. J. Hum. Genet. 72 (2003) 812-822
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 812-822
    • Risch, N.1    Tang, H.2    Katzenstein, H.3    Ekstein, J.4
  • 32
    • 16444383717 scopus 로고    scopus 로고
    • Carrier screening panels for Ashkenazi Jews: is more better?
    • Leib J.R., Gollust S.E., Hull S.C., and Willford B.S. Carrier screening panels for Ashkenazi Jews: is more better?. Genet. Med. 7 (2005) 185-190
    • (2005) Genet. Med. , vol.7 , pp. 185-190
    • Leib, J.R.1    Gollust, S.E.2    Hull, S.C.3    Willford, B.S.4
  • 34
    • 0018836110 scopus 로고
    • Metachromatic leukodystrophy in the Habbanite Jews: high frequency in a genetic isolate and screening for heterozytoes
    • Zlotogora J., Bach G., Barak Y., and Elian E. Metachromatic leukodystrophy in the Habbanite Jews: high frequency in a genetic isolate and screening for heterozytoes. Am. J. Hum. Genet. 32 (1980) 663-669
    • (1980) Am. J. Hum. Genet. , vol.32 , pp. 663-669
    • Zlotogora, J.1    Bach, G.2    Barak, Y.3    Elian, E.4
  • 37
    • 33745108808 scopus 로고    scopus 로고
    • Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for newborn screening of lysosomal storage disorders
    • Gelb M.H., Turecek F., Scott C.R., and Chamole N.A. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for newborn screening of lysosomal storage disorders. J. Inherit. Metab. Dis. 29 (2006) 397-404
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 397-404
    • Gelb, M.H.1    Turecek, F.2    Scott, C.R.3    Chamole, N.A.4
  • 38
    • 33745094451 scopus 로고    scopus 로고
    • Screening for lysosomal storage disorders-A clinical perspective
    • Fletcher J.M. Screening for lysosomal storage disorders-A clinical perspective. J. Inherit. Metab. Dis. 29 (2006) 405-408
    • (2006) J. Inherit. Metab. Dis. , vol.29 , pp. 405-408
    • Fletcher, J.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.