Literature DB >> 5056633

Detection of Fabry hemizygotes and heterozygotes by measurement of -galactosidase in urine.

P J Rietra, J M Tager, W P de Groot.   

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Year:  1972        PMID： 5056633     DOI： 10.1016/0009-8981(72)90275-6

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  3 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

2.  Segregation of human hypoxanthine phosphoribosyltransferase activity from somatic cell hybrids isolated from fusion of mouse gene transfer cells with Chinese hamster cells.

Authors:  P J Davies; K Willecke
Journal:  Mol Gen Genet       Date:  1977-07-20

3.  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
  3 in total

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