Literature DB >> 16403380

Angiokeratoma corporis diffusum (Fabry disease).

Julie K Karen1, Elizabeth K Hale, Linglei Ma.   

Abstract

A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs. The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.

Entities:  

Mesh:

Year:  2005        PMID: 16403380

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  5 in total

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Journal:  Assay Drug Dev Technol       Date:  2020-11-06       Impact factor: 1.738

2.  Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease.

Authors:  D Marchesan; T M Cox; P B Deegan
Journal:  J Inherit Metab Dis       Date:  2012-03-24       Impact factor: 4.982

3.  Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation.

Authors:  Dan Liu; Kai Hu; Marie Schmidt; Jonas Müntze; Octavian Maniuc; Daniel Gensler; Daniel Oder; Tim Salinger; Frank Weidemann; Georg Ertl; Stefan Frantz; Christoph Wanner; Peter Nordbeck
Journal:  Clin Res Cardiol       Date:  2018-05-24       Impact factor: 5.460

Review 4.  Lysosomal Abnormalities in Cardiovascular Disease.

Authors:  Congwu Chi; Andrew S Riching; Kunhua Song
Journal:  Int J Mol Sci       Date:  2020-01-27       Impact factor: 5.923

Review 5.  Lysosome Function in Cardiovascular Diseases.

Authors:  Owais M Bhat; Pin-Lan Li
Journal:  Cell Physiol Biochem       Date:  2021-05-22
  5 in total

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