Literature DB >> 5028965

Fabry's disease: absence of an -galactosidase isozyme.

S Wood, H L Nadler.   

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Year:  1972        PMID： 5028965      PMCID： PMC1762282     

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


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  13 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.  FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID.

Authors:  C C SWEELEY; B KLIONSKY
Journal:  J Biol Chem       Date:  1963-09       Impact factor: 5.157

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.  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

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

6.  Fabry's disease: antenatal detection.

Authors:  R O Brady; B W Uhlendorf; C B Jacobson
Journal:  Science       Date:  1971-04-09       Impact factor: 47.728

7.  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

8.  Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.

Authors:  M T Porter; A L Fluharty; H Kihara
Journal:  Proc Natl Acad Sci U S A       Date:  1969-03       Impact factor: 11.205

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

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

10.  Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.

Authors:  R Matalon; A Dorfman; G Dawson; C C Sweeley
Journal:  Science       Date:  1969-06-27       Impact factor: 47.728
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  6 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.  Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.

Authors:  A H Fensom; P F Benson; A R Grant; L Jacobs
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

4.  [Analytical study of Fabry's disease (author's transl)].

Authors:  J Roth; E Schulze; G Raabe; G Waldmann
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1974

5.  Endocytosis of lysosomal alpha-galactosidase A by cultured fibroblasts from patients with Fabry disease.

Authors:  J S Mayes; E L Cray; V A Dell; J B Scheerer; R N Sifers
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

6.  Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles.

Authors:  M W Spence; A L Goldbloom; J K Burgess; D D'entremont; B A Ripley; K L Weldon
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
  6 in total

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