Literature DB >> 5028973

Fabry's disease: the search for a regulator gene mutation in man.

H E Sutton, G S Omenn.   

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Year:  1972        PMID： 5028973      PMCID： PMC1762268     

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


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  11 in total

Review 1.  Disorders of ganglioside metabolism.

Authors:  R O Brady; E H Kolodny
Journal:  Prog Med Genet       Date:  1972

2.  Enzyme replacement in Fabry's disease, an inborn error of metabolism.

Authors:  C A Mapes; R L Anderson; C C Sweeley; R J Desnick; W Krivit
Journal:  Science       Date:  1970-09-04       Impact factor: 47.728

3.  Linkage relationships of the angiokeratoma (Fabry) locus.

Authors:  A W Johnston; P Frost; G L Spaeth; J H Renwick
Journal:  Ann Hum Genet       Date:  1969-05       Impact factor: 1.670

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

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

5.  A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity.

Authors:  A Yoshida; A G Motulsky
Journal:  Am J Hum Genet       Date:  1969-09       Impact factor: 11.025

6.  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

7.  Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production.

Authors:  A Yoshida
Journal:  J Mol Biol       Date:  1970-09-28       Impact factor: 5.469

8.  The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.

Authors:  J M Opitz; F C Stiles; D Wise; R R Race; R Sanger; G R Von Gemmingen; R R Kierland; E G Cross; W P De Groot
Journal:  Am J Hum Genet       Date:  1965-07       Impact factor: 11.025

9.  Loss of human genetic markers in man--Chinese hamster somatic cell hybrids.

Authors:  A Westerveld; R P Visser; P Meera Khan; D Bootsma
Journal:  Nat New Biol       Date:  1971-11-03

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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  2 in total

1.  Residual activity of alpha-galactosidase A in Fabry's disease.

Authors:  G Romeo; M D'Urso; A Pisacane; E Blum; A De Falco; A Ruffilli
Journal:  Biochem Genet       Date:  1975-10       Impact factor: 1.890

2.  Human serum dopamine beta-hydroxylase: correlation of enzymatic activity with immunoreactive protein in genetically defined samples.

Authors:  J Dunnette; R Weinshilboum
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025
  2 in total

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