Literature DB >> 13873139

Gaucher's disease without splenomegaly. Oldest patient on record, with review.

L BRINN, S GLABMAN.   

Abstract

Entities:  

Keywords:  LIPOIDOSIS/case reports

Mesh：

Year:  1962        PMID： 13873139

Source DB:  PubMed          Journal:  N Y State J Med        ISSN： 0028-7628


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  5 in total

1.  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

2.  Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.

Authors:  P N Graves; G A Grabowski; M D Ludman; P Palese; F I Smith
Journal:  Am J Hum Genet       Date:  1986-12       Impact factor: 11.025

3.  Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting.

Authors:  D Fabbro; R J Desnick; G A Grabowski
Journal:  Am J Hum Genet       Date:  1987-01       Impact factor: 11.025

4.  Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.

Authors:  G A Grabowski; T Dinur; K M Osiecki; J R Kruse; G Legler; S Gatt
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

5.  Adult Gaucher disease in association with acute leukaemia.

Authors:  G M Corbett; P J Darbyshire; G T Besley; A C Parker
Journal:  Postgrad Med J       Date:  1987-10       Impact factor: 2.401
  5 in total

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