Literature DB >> 5012691

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

M W Ho, J Seck, D Schmidt, M L Veath, W Johnson, R O Brady, J S O'Brien.   

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Year:  1972        PMID： 5012691      PMCID： PMC1762143     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  GAUCHER'S DISEASE. HEREDITARY TRANSMISSION AND RACIAL DISTRIBUTION.

Authors:  J J GROEN
Journal:  Arch Intern Med       Date:  1964-04

2.  METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

Authors:  R O BRADY; J N KANFER; D SHAPIRO
Journal:  Biochem Biophys Res Commun       Date:  1965-01-18       Impact factor: 3.575

3.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

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

Authors:  E Beutler; W Kuhl
Journal:  Lancet       Date:  1970-03-21       Impact factor: 79.321

5.  Identity of beta-glucosidase, beta-xylosidase and one of the beta-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-beta-D-glycosides studies in cases of Gaucher's disease.

Authors:  P A Ockerman
Journal:  Biochim Biophys Acta       Date:  1968-08-06

6.  Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis.

Authors:  R O Brady; J S O'Brien; R M Bradley; A E Gal
Journal:  Biochim Biophys Acta       Date:  1970-06-09

7.  Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.

Authors:  E Beutler; W Kuhl; F Trinidad; R Teplitz; H Nadler
Journal:  Am J Hum Genet       Date:  1971-01       Impact factor: 11.025

8.  Separation and properties of beta-galactosidase, beta-glucosidase, beta-glucuronidase and N-acetyl-beta-glucosaminidase from rat kidney.

Authors:  D Robinson; R G Price; N Dance
Journal:  Biochem J       Date:  1967-02       Impact factor: 3.857

9.  The sphingolipidoses.

Authors:  R O Brady
Journal:  N Engl J Med       Date:  1966-08-11       Impact factor: 91.245
  9 in total
  22 in total

1.  Benefits from unearthing "a biochemical Rosetta Stone".

Authors:  Roscoe O Brady
Journal:  J Biol Chem       Date:  2010-10-28       Impact factor: 5.157

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.  Hepatobiliary quiz-10 (2014).

Authors:  Swastik Agrawal; Radha K Dhiman
Journal:  J Clin Exp Hepatol       Date:  2014-06

Review 4.  Gaucher disease.

Authors:  Aabha Nagral
Journal:  J Clin Exp Hepatol       Date:  2014-04-21

5.  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

Review 6.  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

7.  Purified human liver acid beta-D-galactosidases possessing activity towards G(M1)-ganglioside and lactosylceramide.

Authors:  A L Miller; R G Frost; J S O'Brien
Journal:  Biochem J       Date:  1977-09-01       Impact factor: 3.857

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.  An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Authors:  A G Norden; J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1975-01       Impact factor: 11.205

10.  Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients.

Authors:  J S O'Brien
Journal:  Proc Natl Acad Sci U S A       Date:  1972-07       Impact factor: 11.205
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