Literature DB >> 6775671

Anderson-Fabry disease. Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy.

S M Breathnach, M M Black, H J Wallace.   

Abstract

Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothelial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected with Anderson-Fabry disease long before the development of specific skin lesions.

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Year:  1980        PMID: 6775671     DOI: 10.1111/j.1365-2133.1980.tb15841.x

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


  2 in total

1.  Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins.

Authors:  L Hasholt; S A Sørensen
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

Review 2.  Fabry disease in infancy and early childhood: a systematic literature review.

Authors:  Dawn A Laney; Dawn S Peck; Andrea M Atherton; Linda P Manwaring; Katherine M Christensen; Suma P Shankar; Dorothy K Grange; William R Wilcox; Robert J Hopkin
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

  2 in total

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