Literature DB >> 11889412

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

Mary H Branton1, Raphael Schiffmann, Sharda G Sabnis, Gary J Murray, Jane M Quirk, Gheona Altarescu, Lev Goldfarb, Roscoe O Brady, James E Balow, Howard A Austin Iii, Jeffrey B Kopp.   

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Year:  2002        PMID： 11889412     DOI： 10.1097/00005792-200203000-00003

Source DB:  PubMed          Journal:  Medicine (Baltimore)        ISSN： 0025-7974            Impact factor:   1.889


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  124 in total

1.  Anderson-Fabry disease in Austria.

Authors:  Matthias Lorenz; Anna-Christina Hauser; Margot Püspök-Schwarz; Peter Kotanko; Ingrid Arias; Herbert Zodl; Reinhard Kramar; Eduard Paschke; Till Voigtländer; Gere Sunder-Plassmann
Journal:  Wien Klin Wochenschr       Date:  2003-04-30       Impact factor: 1.704

Review 2.  Fabry disease, enzyme replacement therapy and the significance of antibody responses.

Authors:  Patrick B Deegan
Journal:  J Inherit Metab Dis       Date:  2011-10-25       Impact factor: 4.982

3.  High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease.

Authors:  A C Hauser; A Gessl; M Lorenz; T Voigtländer; M Födinger; G Sunder-Plassmann
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

4.  Nephropathology quiz page. Heterozygous Fabry's disease.

Authors:  Helen Liapsis
Journal:  Int Urol Nephrol       Date:  2006       Impact factor: 2.370

Review 5.  Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R).

Authors:  Keisuke Suzuki; Naoto Miura; Wataru Kitagawa; Shinkichi Suzuki; Atsushi Komatsuda; Kazuhiro Nishikawa; Daisuke Watanabe; Hirokazu Imai
Journal:  Clin Exp Nephrol       Date:  2011-07-15       Impact factor: 2.801

6.  The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

Authors:  A C Vedder; G E Linthorst; M J van Breemen; J E M Groener; F J Bemelman; A Strijland; M M A M Mannens; J M F G Aerts; C E M Hollak
Journal:  J Inherit Metab Dis       Date:  2007-01-05       Impact factor: 4.982

Review 7.  Living donor kidney transplantation in patients with hereditary nephropathies.

Authors:  Patrick Niaudet
Journal:  Nat Rev Nephrol       Date:  2010-09-28       Impact factor: 28.314

8.  Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

Authors:  B Hoffmann; A Garcia de Lorenzo; A Mehta; M Beck; U Widmer; R Ricci
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

Review 9.  [Effect of enzyme replacement therapy (ERT) on renal function of patients with Fabry's disease].

Authors:  Thomas Thomaidis; Manfred Relle; Joerg Reinke; Michael Beck; Andreas Schwarting
Journal:  Med Klin (Munich)       Date:  2009-09-23

10.  The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

Authors:  Richie Khanna; Rebecca Soska; Yi Lun; Jessie Feng; Michelle Frascella; Brandy Young; Nastry Brignol; Lee Pellegrino; Sheela A Sitaraman; Robert J Desnick; Elfrida R Benjamin; David J Lockhart; Kenneth J Valenzano
Journal:  Mol Ther       Date:  2009-09-22       Impact factor: 11.454
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