Literature DB >> 4726891

Fabry's disease: normal alpha-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes.

J L Avila, J Convit, G Velazquez-Avila.   

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Year:  1973        PMID： 4726891     DOI： 10.1111/j.1365-2133.1973.tb02951.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  8 in total

1.  Inhibition of leucocytic lysosomal enzymes by glycosaminoglycans in vitro.

Authors:  J L Avila; J Convit
Journal:  Biochem J       Date:  1975-10       Impact factor: 3.857

2.  Physicochemical characteristics of the glycosaminoglycan-lysosomal enzyme interaction in vitro. A model of control of leucocytic lysosomal activity.

Authors:  J L Avila; J Convit
Journal:  Biochem J       Date:  1976-11-15       Impact factor: 3.857

3.  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

4.  Increased glycosphingolipid excretion associated with proteinuria.

Authors:  R R Townsend; R M Orth; C M Clawson; S C Li; Y T Li
Journal:  J Clin Invest       Date:  1978-07       Impact factor: 14.808

5.  Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Authors:  H S Bernstein; D F Bishop; K H Astrin; R Kornreich; C M Eng; H Sakuraba; R J Desnick
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

6.  A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.

Authors:  L Hasholt; S A Sørensen; A Wandall; E B Andersen; P Arlien-Søborg
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

7.  Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

Authors:  K Mills; P Morris; P Lee; A Vellodi; S Waldek; E Young; B Winchester
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

8.  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
  8 in total

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