Literature DB >> 12676911

Clinical presentation in female patients with Fabry disease.

N Guffon.   

Abstract

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Year:  2003        PMID： 12676911      PMCID： PMC1735431          DOI： 10.1136/jmg.40.4.e38

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  Natural history of Fabry disease in females in the Fabry Outcome Survey.

Authors:  P B Deegan; A F Baehner; M-A Barba Romero; D A Hughes; C Kampmann; M Beck
Journal:  J Med Genet       Date:  2005-10-14       Impact factor: 6.318

2.  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 3.  Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.

Authors:  Saskia M Rombach; Bouwien E Smid; Gabor E Linthorst; Marcel G W Dijkgraaf; Carla E M Hollak
Journal:  J Inherit Metab Dis       Date:  2014-02-04       Impact factor: 4.982

Review 4.  [Importance of psychosomatic medicine for people with rare diseases].

Authors:  B Kolb-Niemann; J Kruse
Journal:  Internist (Berl)       Date:  2019-06       Impact factor: 0.743

5.  Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.

Authors:  M Kobayashi; T Ohashi; M Sakuma; H Ida; Y Eto
Journal:  J Inherit Metab Dis       Date:  2008-01-21       Impact factor: 4.982

6.  Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.

Authors:  Charlotte von der Lippe; Jan C Frich; Anna Harris; Kari Nyheim Solbrække
Journal:  J Genet Couns       Date:  2016-03-07       Impact factor: 2.537

7.  Prevalence of symptoms in female Fabry disease patients: a case-control survey.

Authors:  Machtelt G Bouwman; Saskia M Rombach; Erica Schenk; Annelies Sweeb; Frits A Wijburg; Carla E M Hollak; Gabor E Linthorst
Journal:  J Inherit Metab Dis       Date:  2012-03-20       Impact factor: 4.982

8.  A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapy.

Authors:  Andreas D Kistler; Justyna Siwy; Frank Breunig; Praveen Jeevaratnam; Alexander Scherl; William Mullen; David G Warnock; Christoph Wanner; Derralynn A Hughes; Harald Mischak; Rudolf P Wüthrich; Andreas L Serra
Journal:  PLoS One       Date:  2011-06-15       Impact factor: 3.240

Review 9.  Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies.

Authors:  Regina El Dib; Huda Gomaa; Alberto Ortiz; Juan Politei; Anil Kapoor; Fellype Barreto
Journal:  PLoS One       Date:  2017-03-15       Impact factor: 3.240

10.  Fabry disease in the Spanish population: observational study with detection of 77 patients.

Authors:  Irene Vieitez; Olga Souto-Rodriguez; Lorena Fernandez-Mosquera; Beatriz San Millan; Susana Teijeira; Julian Fernandez-Martin; Felisa Martinez-Sanchez; Luis Jose Aldamiz-Echevarria; Monica Lopez-Rodriguez; Carmen Navarro; Saida Ortolano
Journal:  Orphanet J Rare Dis       Date:  2018-04-10       Impact factor: 4.123
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