Literature DB >> 11295840

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

D P Germain1, D Salard, F Fellmann, K Azibi, C Caillaud, M C Bernard, L Poenaru.   

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Year:  2001        PMID： 11295840     DOI： 10.1002/humu.41

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  9 in total

1.  Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors:  Robin L Bennett; Kimberly A Hart; Erin O'Rourke; John A Barranger; Jack Johnson; Kay D MacDermot; Gregory M Pastores; Robert D Steiner; Ravi Thadhani
Journal:  J Genet Couns       Date:  2002-04       Impact factor: 2.537

2.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

3.  Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

Authors:  Satoshi Ishii; Hui-Hwa Chang; Kunito Kawasaki; Kayo Yasuda; Hui-Li Wu; Scott C Garman; Jian-Qiang Fan
Journal:  Biochem J       Date:  2007-09-01       Impact factor: 3.857

Review 4.  Fabry's disease: an example of cardiorenal syndrome type 5.

Authors:  Aashish Sharma; Marco Sartori; Jose J Zaragoza; Gianluca Villa; Renhua Lu; Elena Faggiana; Alessandra Brocca; Luca Di Lullo; Sandro Feriozzi; Claudio Ronco
Journal:  Heart Fail Rev       Date:  2015-11       Impact factor: 4.214

5.  Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Authors:  Kanako Sugawara; Kazuki Ohno; Seiji Saito; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2008-07-17       Impact factor: 3.172

Review 6.  Fabry disease.

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

7.  Frequency of de novo mutations in Japanese patients with Fabry disease.

Authors:  Masahisa Kobayashi; Toya Ohashi; Sayoko Iizuka; Eiko Kaneshiro; Takashi Higuchi; Yoshikatsu Eto; Hiroyuki Ida
Journal:  Mol Genet Metab Rep       Date:  2014-08-02

Review 8.  Fabry disease and its cardiac involvement.

Authors:  Toru Kubo
Journal:  J Gen Fam Med       Date:  2017-05-08

9.  Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

Authors:  Antonio Pisani; Aurora Daniele; Carmela Di Domenico; Ersilia Nigro; Francesco Salvatore; Eleonora Riccio
Journal:  BMC Res Notes       Date:  2015-11-24
  9 in total

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