Literature DB >> 5277357

The genetic mismanagement of complex lipid metabolism.

R O Brady.   

Abstract

Entities:  

Year:  1971        PMID: 5277357      PMCID: PMC1749773     

Source DB:  PubMed          Journal:  Bull N Y Acad Med        ISSN: 0028-7091


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  22 in total

1.  The lysosomal localization of sphingolipid hydrolases.

Authors:  N J Weinreb; R O Brady; A L Tappel
Journal:  Biochim Biophys Acta       Date:  1968-04-24

2.  Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs.

Authors:  K Sandhoff; U Andreae; H Jatzkewitz
Journal:  Pathol Eur       Date:  1968

3.  Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.

Authors:  R O Brady; J N Kanfer; R M Bradley; D Shapiro
Journal:  J Clin Invest       Date:  1966-07       Impact factor: 14.808

4.  The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae.

Authors:  R O Brady; J N Kanfer; M B Mock; D S Fredrickson
Journal:  Proc Natl Acad Sci U S A       Date:  1966-02       Impact factor: 11.205

5.  Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.

Authors:  R O Brady; A E Gal; R M Bradley; E Martensson; A L Warshaw; L Laster
Journal:  N Engl J Med       Date:  1967-05-25       Impact factor: 91.245

6.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

7.  Metachromatic leukodystrophy: diagnosis with samples of venous blood.

Authors:  A K Percy; R O Brady
Journal:  Science       Date:  1968-08-09       Impact factor: 47.728

8.  Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).

Authors:  J Austin; D Armstrong; L Shearer
Journal:  Arch Neurol       Date:  1965-12

9.  Generalized gangliosidosis: beta-galactosidase deficiency.

Authors:  S Okada; J S O'Brien
Journal:  Science       Date:  1968-05-31       Impact factor: 47.728

10.  Lysosomes in type II glycogenosis. Changes during administration of extract from Aspergillus niger.

Authors:  G Hug; W K Schubert
Journal:  J Cell Biol       Date:  1967-10       Impact factor: 10.539

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