Literature DB >> 4190558

Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes.

E Beutler, W Kuhl.   

Abstract

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Year:  1970        PMID： 4190558     DOI： 10.1016/s0140-6736(70)91646-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  23 in total

Review 1.  Basic findings and current developments in sphingolipidoses.

Authors:  H Pilz; R Heipertz; D Seidel
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

Review 2.  Glycosphingolipid hydrolases: properties and molecular genetics.

Authors:  M Wan Ho; A G Norden; J A Alhadeff; J S O'Brien
Journal:  Mol Cell Biochem       Date:  1977-10-07       Impact factor: 3.396

3.  The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Authors:  E Sidransky; N Tayebi; B K Stubblefield; W Eliason; A Klineburgess; G P Pizzolato; J N Cox; J Porta; A Bottani; C D DeLozier-Blanchet
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

4.  [International Children's Day].

Authors: 
Journal:  Pediatriia       Date:  1977-06

Review 5.  Some aspects of the cellular biochemistry of lysosomal and related glycosidases.

Authors:  O Touster
Journal:  Mol Cell Biochem       Date:  1973-12-15       Impact factor: 3.396

6.  Glucocerebrosidase: reconstitution of activity from macromolecular components.

Authors:  M W Ho; J S O'Brien; N S Radin; J S Erickson
Journal:  Biochem J       Date:  1973-01       Impact factor: 3.857

7.  Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts.

Authors:  M W Ho; J Seck; D Schmidt; M L Veath; W Johnson; R O Brady; J S O'Brien
Journal:  Am J Hum Genet       Date:  1972-01       Impact factor: 11.025

8.  Identity of 'acid' beta-glucosidase and glucocerebrosidase in human spleen.

Authors:  M W Ho
Journal:  Biochem J       Date:  1973-11       Impact factor: 3.857

9.  [Glucocerebrosidase deficiency and tentative identification of heterozygous carriers in a family with Gaucher's disease type I (author's transl)].

Authors:  K Harzer
Journal:  Klin Wochenschr       Date:  1974-12-15

10.  Experimental polymer storage disease in rabbits. An approach to the histogenesis of sphingolipidoses.

Authors:  K Miyasaki
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1975
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