An improved procedure for diagnosis of Gaucher disease using cultured skin fibroblasts and the chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-β-d-glucopyranoside
Authors:
- R.J. BarnsRBR.J. Barns
- A.E. ClagueACA.E. Clague
- 1 March 1982
- journal article
- research article
- Published by Elsevier in Clinica Chimica Acta
- Vol. 120 (1) , 57-63
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- Assay of the β-glucosidase activity with natural labelled and artificial substrates in leukocytes from homozygotes and heterozygotes with the norrbottnian type (type 3) of Gaucher diseaseClinica Chimica Acta, 1980
- Diagnosis of adult gaucher disease: Use of a new chromogenic substrate, 2-hexadecanoylamino-4-nitrophenyl-β-d-glucopyranoside, in cultured skin fibroblastsClinica Chimica Acta, 1980
- Activation of membrane-bound glucosylceramide: beta-glucosidase in fibroblasts cultured from normal and glucosylceramidotic human skin.Journal of Biological Chemistry, 1979
- Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.Journal of Clinical Pathology, 1978
- Synthetic substrate ß‐glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's diseaseClinical Genetics, 1978
- Leukocyte Glucocerebrosidase Deficiency Diagnostic in Adult Gaucher's Disease with Negative Bone Marrow Biopsy. Some Properties of the Enzyme in Leukocytes and SpleenEuropean Journal of Clinical Investigation, 1974
- Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher's diseaseBiochemical and Biophysical Research Communications, 1965
- PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENTJournal of Biological Chemistry, 1951