Literature DB >> 11688388

Clinical manifestation in female Fabry disease patients.

C Whybra1, K Wendrich, M Ries, A Gal, M Beck.   

Abstract

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Year:  2001        PMID： 11688388     DOI： 10.1159/000060196

Source DB:  PubMed          Journal:  Contrib Nephrol        ISSN： 0302-5144            Impact factor:   1.580


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  10 in total

1.  Awareness of Fabry disease among rheumatologists--current status and perspectives.

Authors:  Rolando Cimaz; Severine Guillaume; Max J Hilz; Gerd Horneff; Bernhard Manger; J Carter Thorne; Anette Torvin Møller; Nico M Wulffraat; Johannes Roth
Journal:  Clin Rheumatol       Date:  2011-04       Impact factor: 2.980

2.  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

3.  Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Authors:  I V D Schwartz; L L C Pinto; G Breda; L Lima; M G Ribeiro; J G Mota; A X Acosta; P Correia; D D G Horovitz; C G G Porciuncula; E Lipinski-Figueiredo; A C Fett-Conte; R P Oliveira Sobrinho; D Y J Norato; A C Paula; C A Kim; A R Duarte; R Boy; S Leistner-Segal; M G Burin; R Giugliani
Journal:  J Inherit Metab Dis       Date:  2009-10-10       Impact factor: 4.982

4.  Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study.

Authors:  F Baehner; C Kampmann; C Whybra; E Miebach; C M Wiethoff; M Beck
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 5.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123

6.  Galectin-3 and β-trace protein concentrations are higher in clinically unaffected patients with Fabry disease.

Authors:  Diana Hernández-Romero; Jessica Sánchez-Quiñones; Juan Antonio Vílchez; José Miguel Rivera-Caravaca; Gonzalo de la Morena; Gregory Y H Lip; Vicente Climent; Francisco Marín
Journal:  Sci Rep       Date:  2019-04-17       Impact factor: 4.379

7.  Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.

Authors:  Hila Braunstein; Maria Papazian; Gali Maor; Jan Lukas; Arndt Rolfs; Mia Horowitz
Journal:  Int J Mol Sci       Date:  2020-10-07       Impact factor: 5.923

Review 8.  Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.

Authors:  Björn Hoffmann
Journal:  Orphanet J Rare Dis       Date:  2009-10-11       Impact factor: 4.123

9.  Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients.

Authors:  Karen B Müller; Luciano C Galdieri; Vanessa G Pereira; Ana M Martins; Vânia D'Almeida
Journal:  Genet Mol Biol       Date:  2012-05-17       Impact factor: 1.771

Review 10.  Striving towards the ideal cardiac functional assessment strategy: the contribution of tissue Doppler, strain and strain rate imaging.

Authors:  J C Mooman-Smook; P A Brink
Journal:  Cardiovasc J Afr       Date:  2007 Nov-Dec       Impact factor: 1.167
  10 in total

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