Literature DB >> 11688386

A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.

D P Germain1.   

Abstract

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Year:  2001        PMID： 11688386     DOI： 10.1159/000060194

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


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  17 in total

1.  A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.

Authors:  Th Kroepfl; K Paul; P Kotanko; B Plecko; E Paschke
Journal:  J Inherit Metab Dis       Date:  2002-12       Impact factor: 4.982

2.  Prevalence of Fabry disease in men with tinnitus and sensorineural hearing loss.

Authors:  Richard Holy; Tereza Hlozkova; Klara Prochazkova; David Kalfert; Frantiska Hybnerova; Denisa Ebelova; Berthold Streubel; Martin Chovanec; Bretislav Gal; Ales Linhart; Jaromir Astl
Journal:  J Appl Biomed       Date:  2021-01-28       Impact factor: 1.797

Review 3.  Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.

Authors:  Brendan N Putko; Kevin Wen; Richard B Thompson; John Mullen; Miriam Shanks; Haran Yogasundaram; Consolato Sergi; Gavin Y Oudit
Journal:  Heart Fail Rev       Date:  2015-03       Impact factor: 4.214

Review 4.  The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Authors:  Dominique P Germain; Sergey Moiseev; Fernando Suárez-Obando; Faisal Al Ismaili; Huda Al Khawaja; Gheona Altarescu; Fellype C Barreto; Farid Haddoum; Fatemeh Hadipour; Irina Maksimova; Mirelle Kramis; Sheela Nampoothiri; Khanh Ngoc Nguyen; Dau-Ming Niu; Juan Politei; Long-Sun Ro; Dung Vu Chi; Nan Chen; Sergey Kutsev
Journal:  Mol Genet Genomic Med       Date:  2021-04-09       Impact factor: 2.183

Review 5.  Fabry disease.

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

6.  Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.

Authors:  Daniel Oder; Nurcan Üçeyler; Dan Liu; Kai Hu; Bernhard Petritsch; Claudia Sommer; Georg Ertl; Christoph Wanner; Peter Nordbeck
Journal:  BMJ Open       Date:  2016-04-08       Impact factor: 2.692

7.  A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.

Authors:  Han-Jui Lee; Ting-Rong Hsu; Sheng-Che Hung; Wen-Chung Yu; Tzu-Hung Chu; Chia-Feng Yang; Svetlana Bizjajeva; Chui-Mei Tiu; Dau-Ming Niu
Journal:  BMC Neurol       Date:  2017-02-06       Impact factor: 2.474

8.  Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease.

Authors:  Fernando C Fervenza; Roser Torra; David G Warnock
Journal:  Biologics       Date:  2008-12

9.  Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Authors:  Juan M Politei; Didier Bouhassira; Dominique P Germain; Cyril Goizet; Antonio Guerrero-Sola; Max J Hilz; Elspeth J Hutton; Amel Karaa; Rocco Liguori; Nurcan Üçeyler; Lonnie K Zeltzer; Alessandro Burlina
Journal:  CNS Neurosci Ther       Date:  2016-03-28       Impact factor: 5.243

10.  Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.

Authors:  Dominique P Germain; Eva Brand; Alessandro Burlina; Franco Cecchi; Scott C Garman; Judy Kempf; Dawn A Laney; Aleš Linhart; László Maródi; Kathy Nicholls; Alberto Ortiz; Federico Pieruzzi; Suma P Shankar; Stephen Waldek; Christoph Wanner; Ana Jovanovic
Journal:  Mol Genet Genomic Med       Date:  2018-04-12       Impact factor: 2.183
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