Literature DB >> 5028964

Biochemical and electrophoretic studies of -galactosidase in normal man, in patients with Fabry's disease, and in Equidae.

E Beutler, W Kuhl.   

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Year:  1972        PMID: 5028964      PMCID: PMC1762264     

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


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  15 in total

1.  Lysosomal hydrolases: Conversion of acidic to basic forms by neuraminidase.

Authors:  A Goldstone; P Konecny; H Koenig
Journal:  FEBS Lett       Date:  1971-02-12       Impact factor: 4.124

2.  An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals.

Authors:  O SMITHIES
Journal:  Biochem J       Date:  1959-03       Impact factor: 3.857

Review 3.  Recent advances in Fabry's disease.

Authors:  W Krivit; R J Desnick; C Mapes; R L Anderson; C C Sweeley
Journal:  Trans Assoc Am Physicians       Date:  1970

4.  Non-random X chromosome expression in female mules and hinnies.

Authors:  J L Hamerton; B J Richardson; P A Gee; W R Allen; R V Short
Journal:  Nature       Date:  1971-07-30       Impact factor: 49.962

5.  Anomeric structure of globoside and ceramide grihexoside of human erythrocytes and hamster fibroblasts.

Authors:  S I Hakomori; B Siddiqui; Y T Li; S C Li; C G Hellerqvist
Journal:  J Biol Chem       Date:  1971-04-10       Impact factor: 5.157

Review 6.  Genetics and the sphingolipidoses.

Authors:  R O Brady
Journal:  Med Clin North Am       Date:  1969-07       Impact factor: 5.456

7.  Testosterone-"regulon" in the mouse kidney.

Authors:  R Dofuku; U Tettenborn; S Ohno
Journal:  Nat New Biol       Date:  1971-07-07

8.  Fabry's disease as an -galactosidosis: evidence for an -configuration in trihexosyl ceramide.

Authors:  I Bensaude; J Callahan; M Philippart
Journal:  Biochem Biophys Res Commun       Date:  1971-05-21       Impact factor: 3.575

9.  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

10.  Fabry's disease: alpha-galactosidase deficiency.

Authors:  J A Kint
Journal:  Science       Date:  1970-02-27       Impact factor: 47.728

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  19 in total

1.  [Electron microscopic observations in internal organs in morbus Fabry (author's transl)].

Authors:  J Roth; H Roth
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1978-05-05

2.  [Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)].

Authors:  D Weil; N Van-Cong; C Finaz; R Rebourcet; C Cochet; J de Grouchy; J Frézal
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

Review 3.  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

4.  A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.

Authors:  N Miyamura; E Araki; K Matsuda; R Yoshimura; N Furukawa; K Tsuruzoe; T Shirotani; H Kishikawa; K Yamaguchi; M Shichiri
Journal:  J Clin Invest       Date:  1996-10-15       Impact factor: 14.808

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.  Variability of -galactosidase A and B in different tissues of man.

Authors:  E Beutler; E Guinto; W Kuhl
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

7.  Genic variation within and between the three major races of man, Caucasoids, Negroids, and Mongoloids.

Authors:  M Nei; A K Roychoudhury
Journal:  Am J Hum Genet       Date:  1974-07       Impact factor: 11.025

8.  Control of lysosomal acid phosphatase expression in man-mouse cell hybrids.

Authors:  T B Shaws; P A Lalley
Journal:  Biochem Genet       Date:  1974-02       Impact factor: 1.890

9.  Fabry's disease: evidence for a physically altered -galactosidase.

Authors:  M W Ho; S Beutler; L Tennant; J S O'Brien
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

10.  Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids.

Authors:  J L Hamerton; T Mohandas; J McAlpine
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

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