The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: An evaluation-Reference-Cited by-同舟云学术

The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: An evaluation

Published:1991-12 Issue:2-3 Volume:203 Page:349-361
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Aerts J.M.F.G.,Miranda M.C.Sa,de Lacerda L.Wanzeller,van Weely S.,Donker-Koopman W.,Brouwer-Kelder B.,Jansen D.C.,van Leeuwen M.,Schram A.W.,Tsiapara A.,Tager J.M.

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference32 articles.

1. The metabolic basis of inherited diseases;Barranger,1989

2. Gaucher disease a century of delineation and research;Kolodny,1982

3. Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease

4. A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation

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1. Glycosphingolipids are required for sorting melanosomal proteins in the Golgi complex;Journal of Cell Biology;2001-10-22

2. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value;Human Mutation;1997

3. Identification of Gaucher Disease Carriers: Glucocerebrosidase Antigen and DNA Analysis;Biochemical Medicine and Metabolic Biology;1993-10

4. Identification of GM2-gangliosidosis B1 variant carriers;Journal of Inherited Metabolic Disease;1993