TY - JOUR
T1 - Gaucher Type 1 (Ashkenazi) disease
T2 - a new method for heterozygote detection using a novel fluorescent natural substrate
AU - Grabowski, Gregory A.
AU - Dinur, Tama
AU - Gatt, Shimon
AU - Desnick, Robert J.
N1 - Funding Information:
This work was supported in part by grants from the March of Dimes Birth Defects Foundation (l-578 and 5-281) a grant from the New York Heart Association, Inc. and a grant (5 ROI GM 25279) from the National Institutes of Health. GAG is the recipient of a NIH Clinical Investigator Award (1 K08 HD 00386).
PY - 1982/9/1
Y1 - 1982/9/1
N2 - A new acid β-glucosidase assay for the detection of heterozygotes for Gaucher Type 1 disease has been developed using isolated lymphocytes as enzyme source and a novel fluorescent natural substrate, NBD-glucosyl ceramide. The procedure for optimal heterozygote discrimination was established by systematic evaluation of the effect of various solubilization techniques, detergent concentrations, pH, enzyme sources and artificial vs. natural substrates. A pilot screening study indicated the feasible application of this assay for heterozygote detection in the high-risk Ashkenazi Jewish population.
AB - A new acid β-glucosidase assay for the detection of heterozygotes for Gaucher Type 1 disease has been developed using isolated lymphocytes as enzyme source and a novel fluorescent natural substrate, NBD-glucosyl ceramide. The procedure for optimal heterozygote discrimination was established by systematic evaluation of the effect of various solubilization techniques, detergent concentrations, pH, enzyme sources and artificial vs. natural substrates. A pilot screening study indicated the feasible application of this assay for heterozygote detection in the high-risk Ashkenazi Jewish population.
UR - http://www.scopus.com/inward/record.url?scp=0019972306&partnerID=8YFLogxK
U2 - 10.1016/0009-8981(82)90326-6
DO - 10.1016/0009-8981(82)90326-6
M3 - Article
C2 - 6889929
AN - SCOPUS:0019972306
SN - 0009-8981
VL - 124
SP - 123
EP - 135
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 1
ER -