Asymptomatic Gaucher disease implications for large-scale screening

Genetic Testing

Volumn 2, Issue 4, 1998, Pages 297-299

  Azuri, Joseph ^a   Elstein, Deborah ^a   Lahad, Amnon ^a   Abrahamov, Ayala ^a   Hadas Halpern, Irith ^a   Zimran, Ari ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; ETHNOLOGY; EUROPE; FEMALE; GAUCHER DISEASE; GENETIC SCREENING; GENETICS; GENOTYPE; HOSPITALIZATION; HUMAN; ISRAEL; JEW; MALE; MIDDLE AGED; PREVALENCE; QUALITY OF LIFE;

ADOLESCENT; ADULT; ALLELES; EUROPE; FEMALE; GAUCHER DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; ISRAEL; JEWS; MALE; MIDDLE AGED; PREVALENCE; QUALITY OF LIFE; SEVERITY OF ILLNESS INDEX;

EID: 0032248994     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1998.2.297     Document Type: Article

References (6)

1. BEUTLER, E., NGUYEN, N.J., HENNEBERGER, M.W., SMOLEC, J.M., McPHERSON, B.A., WEST, C., and GELBART, T. (1993). Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am. J. Hum. Genet. 52, 85-88.
2. GRABOWSKI, G.A., and HOROWITZ, M. (1997). Gaucher's disease: molecular, genetic and enzymological aspects. Clin. Haematol. 10, 635-656.
3. KOLODNY, E.H., ULLMAN, M.D., MANKIN, H.J., RAGHAVAN, S.S., TOPOL, J., and SULLIVAN, J.L. (1982). Phenotypic manifestations of Gaucher disease: Clinical features in 48 biochemically verified type I patients and comment on type II patients. In Gaucher Disease: A Century of Delineation and Research. R.J. Desnick, S. Gatt, and G.A. Grabowski (eds.). (Alan R. Liss, New York) pp. 33-65.
4. LEVY-LAHAD, E., and ZIMRAN, A. (1997). Genetic counseling and population genetics. Clin. Haematol. 10, 779-792.
5. MCCABE, E.R.B., FINE, B.A., GOLBUS, M.S., et al. (1996). Gaucher disease - Current issues in diagnosis and treatment. J. Am. Med. Assn. 275, 548-553.
6. ZIMRAN, A., SORGE, J., GROSS, E., KURITZ, M., WEST, C., and BEUTLER, E. (1989). Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2, 349-353.