Literature DB >> 16267681

Umbilical angiectases as the sole clinical sign of Fabry disease in a 9-year-old boy.

Andreas O Eggert1, Rupert Wössner, Anita Knoll, Henning Hamm, Christoph Wanner, Frank B Breunig.   

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Year:  2005        PMID： 16267681     DOI： 10.1007/s00431-005-0029-4

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

Review 1.  Fabry disease in childhood.

Authors:  Robert J Desnick; Roscoe O Brady
Journal:  J Pediatr       Date:  2004-05       Impact factor: 4.406

2.  Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

Authors:  C M Eng; N Guffon; W R Wilcox; D P Germain; P Lee; S Waldek; L Caplan; G E Linthorst; R J Desnick
Journal:  N Engl J Med       Date:  2001-07-05       Impact factor: 91.245

Review 3.  Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.

Authors:  Robert J Desnick; Roscoe Brady; John Barranger; Allan J Collins; Dominique P Germain; Martin Goldman; Gregory Grabowski; Seymour Packman; William R Wilcox
Journal:  Ann Intern Med       Date:  2003-02-18       Impact factor: 25.391

4.  The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

Authors:  Markus Ries; Uma Ramaswami; Rossella Parini; Bengt Lindblad; Catharina Whybra; Ingrid Willers; Andreas Gal; Michael Beck
Journal:  Eur J Pediatr       Date:  2003-09-20       Impact factor: 3.183

5.  Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

Authors:  Neal J Weinreb; Joel Charrow; Hans C Andersson; Paige Kaplan; Edwin H Kolodny; Pramod Mistry; Gregory Pastores; Barry E Rosenbloom; C Ronald Scott; Rebecca S Wappner; Ari Zimran
Journal:  Am J Med       Date:  2002-08-01       Impact factor: 4.965

Review 6.  Enzyme replacement therapy in Fabry disease: clinical implications.

Authors:  Frank Breunig; Anita Knoll; Christoph Wanner
Journal:  Curr Opin Nephrol Hypertens       Date:  2003-09       Impact factor: 2.894

7.  Prevalence of lysosomal storage disorders.

Authors:  P J Meikle; J J Hopwood; A E Clague; W F Carey
Journal:  JAMA       Date:  1999-01-20       Impact factor: 56.272
  7 in total

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