Literature DB >> 6477829

Cutaneous manifestations of Gaucher disease.

J Goldblatt, P Beighton.   

Abstract

We reviewed the cutaneous manifestations of type I non-neuropathic Gaucher disease in fifty South African patients. Characteristic changes such as diffuse pigmentation, easy tanning and flitting brown macules were found to be useful pointers to the diagnosis. Other cutaneous changes secondary to infiltration of the marrow and liver were common and important findings.

Entities:  

Mesh:

Year:  1984        PMID: 6477829     DOI: 10.1111/j.1365-2133.1984.tb04731.x

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


  7 in total

1.  Collodion babies with Gaucher's disease.

Authors:  K Lui; C Commens; R Choong; R Jaworski
Journal:  Arch Dis Child       Date:  1988-07       Impact factor: 3.791

Review 2.  Type I Gaucher disease.

Authors:  J Goldblatt
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

3.  Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

Authors:  W M Holleran; E I Ginns; G K Menon; J U Grundmann; M Fartasch; C E McKinney; P M Elias; E Sidransky
Journal:  J Clin Invest       Date:  1994-04       Impact factor: 14.808

Review 4.  Alglucerase. A review of its therapeutic use in Gaucher's disease.

Authors:  R Whittington; K L Goa
Journal:  Drugs       Date:  1992-07       Impact factor: 9.546

Review 5.  Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Authors:  Carlos R Ferreira; Diego Martinelli; Nenad Blau
Journal:  Mol Genet Metab       Date:  2021-07-21       Impact factor: 4.204

Review 6.  A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Authors:  Jérôme Stirnemann; Nadia Belmatoug; Fabrice Camou; Christine Serratrice; Roseline Froissart; Catherine Caillaud; Thierry Levade; Leonardo Astudillo; Jacques Serratrice; Anaïs Brassier; Christian Rose; Thierry Billette de Villemeur; Marc G Berger
Journal:  Int J Mol Sci       Date:  2017-02-17       Impact factor: 5.923

7.  Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

Authors:  Helena Hůlková; Helena Poupetová; Klaus Harzer; Pramod Mistry; Johannes M F G Aerts; Milan Elleder
Journal:  J Inherit Metab Dis       Date:  2010-01-05       Impact factor: 4.982

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.