Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.

Author:

Ben-Yoseph Y,Nadler H L

Publisher

BMJ

Subject

General Medicine,Pathology and Forensic Medicine

Reference11 articles.

1. Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses;Ben-Yoseph, Y.; Burton, B.K.; Nadler, H.L.;American Journal of Human Genetics,1977

2. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of fl-glucosidase activity in peripheral blood leukocytes;Beutler, E.; Kuhl, W.;Journal ofLaboratory and Clinical Medicine,1970

3. fl-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease;Beutler, E.; Kuhl, W.; Trinidad, F.; Teplitz, R.; Nadler, H.;American Journal of Human Genetics,1971

4. Glucosyl ceramide lipidosis: Gaucher's disease;Brady, R. 0,1978

5. Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's disease;Biochemical and Biophysical Research Communications,1965

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