Literature DB >> 21587323

Fabry or not Fabry--a question of ascertainment.

Gunnar Houge, Camilla Tøndel, Oyvind Kaarbøe, Asle Hirth, Leif Bostad, Einar Svarstad.   

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Year:  2011        PMID： 21587323      PMCID： PMC3198147          DOI： 10.1038/ejhg.2011.87

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  5 in total

1.  Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.

Authors:  Robert Dobrovolný; Lenka Dvoráková; Jana Ledvinová; Sudheera Magage; Jan Bultas; Jean C Lubanda; Helena Poupetová; Milan Elleder; Debora Karetová; Martin Hrebícek
Journal:  Am J Med Genet A       Date:  2005-04-01       Impact factor: 2.802

2.  Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria.

Authors:  Camilla Tøndel; Leif Bostad; Liv Marie Laegreid; Gunnar Houge; Einar Svarstad
Journal:  Clin Ther       Date:  2008       Impact factor: 3.393

3.  [Fabry disease--a diagnostic and therapeutic challenge].

Authors:  Gunnar Houge; Alv Johan Skarbøvik
Journal:  Tidsskr Nor Laegeforen       Date:  2005-04-21

Review 4.  Fabry disease.

Authors:  Raphael Schiffmann
Journal:  Pharmacol Ther       Date:  2009-02-08       Impact factor: 12.310

Review 5.  Screening for Fabry disease in high-risk populations: a systematic review.

Authors:  G E Linthorst; M G Bouwman; F A Wijburg; J M F G Aerts; B J H M Poorthuis; C E M Hollak
Journal:  J Med Genet       Date:  2009-09-24       Impact factor: 6.318
  5 in total
  6 in total

1.  Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.

Authors:  Markus Niemann; Arndt Rolfs; Anne Giese; Hermann Mascher; Frank Breunig; Georg Ertl; Christoph Wanner; Frank Weidemann
Journal:  JIMD Rep       Date:  2012-07-01

2.  Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT.

Authors:  W Terryn; R Vanholder; D Hemelsoet; B P Leroy; W Van Biesen; G De Schoenmakere; B Wuyts; K Claes; J De Backer; G De Paepe; A Fogo; M Praet; B Poppe
Journal:  JIMD Rep       Date:  2012-07-29

3.  The Changing Landscape of Fabry Disease.

Authors:  Einar Svarstad; Hans Peter Marti
Journal:  Clin J Am Soc Nephrol       Date:  2020-03-04       Impact factor: 8.237

4.  Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

Authors:  L van der Tol; David Cassiman; Gunnar Houge; Mirian C Janssen; Robin H Lachmann; Gabor E Linthorst; Uma Ramaswami; Claudia Sommer; Camilla Tøndel; Michael L West; Frank Weidemann; Frits A Wijburg; Einar Svarstad; Carla Em Hollak; Marieke Biegstraaten
Journal:  JIMD Rep       Date:  2014-09-16

Review 5.  Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.

Authors:  Ken Kok; Kimberley C Zwiers; Rolf G Boot; Hermen S Overkleeft; Johannes M F G Aerts; Marta Artola
Journal:  Biomolecules       Date:  2021-02-12

6.  Late onset variants in Fabry disease: Results in high risk population screenings in Argentina.

Authors:  G Serebrinsky; M Calvo; S Fernandez; S Saito; K Ohno; E Wallace; D Warnock; H Sakuraba; J Politei
Journal:  Mol Genet Metab Rep       Date:  2015-06-07
  6 in total

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