Literature DB >> 5477334

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.

E Beutler, W Kuhl.   

Abstract

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Year:  1970        PMID： 5477334

Source DB:  PubMed          Journal:  J Lab Clin Med        ISSN： 0022-2143


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  26 in total

1.  Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro.

Authors:  J L Avila; J Convit
Journal:  Biochem J       Date:  1975-10       Impact factor: 3.857

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

Authors:  Y Ben-Yoseph; H L Nadler
Journal:  J Clin Pathol       Date:  1978-11       Impact factor: 3.411

3.  High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Authors:  A Zimran; T Gelbart; B Westwood; G A Grabowski; E Beutler
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

4.  Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.

Authors:  Talita E R Adelino; Gustavo G Martins; Aretta A A Gomes; Adriana A Torres; Daniel A S Silva; Vinícius D O Xavier; João Paulo O Guimarães; Sérgio S S Araújo; Rachel A F Fernandes; Maria Christina L A Oliveira; Ana Lúcia B Godard; Eugênia R Valadares
Journal:  JIMD Rep       Date:  2012-10-13

5.  Beta-D-glucosidase in fractions from rat brain.

Authors:  I J Hermans
Journal:  Neurochem Res       Date:  1978-12       Impact factor: 3.996

6.  Multiple glycosidase deficiencies in a case of juvenile (type 3) Gaucher disease.

Authors:  Y B Chiao; G M Hoyson; S P Peters; R E Lee; W Diven; J V Murphy; R H Glew
Journal:  Proc Natl Acad Sci U S A       Date:  1978-05       Impact factor: 11.205

7.  Enzyme loading of erythrocytes.

Authors:  G M Ihler; R H Glew; F W Schnure
Journal:  Proc Natl Acad Sci U S A       Date:  1973-09       Impact factor: 11.205

8.  Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.

Authors:  E I Ginns; R O Brady; S Pirruccello; C Moore; S Sorrell; F S Furbish; G J Murray; J Tager; J A Barranger
Journal:  Proc Natl Acad Sci U S A       Date:  1982-09       Impact factor: 11.205

9.  Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency.

Authors:  C Mareni; L Repetto; G Forteleoni; T Meloni; G F Gaetani
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

10.  Type-3 Gaucher disease with bilateral necrosis of the neck of femur: a case report.

Authors:  Shobha Mohindroo
Journal:  Cases J       Date:  2009-12-22
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