Literature DB >> 11688379

Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy.

R J Desnick1, M P Wasserstein, M Banikazemi.   

Abstract

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Year:  2001        PMID： 11688379     DOI： 10.1159/000060184

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


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  14 in total

1.  Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Authors:  Rannveig Skrunes; Camilla Tøndel; Sabine Leh; Kristin Kampevold Larsen; Gunnar Houge; Einar Skulstad Davidsen; Carla Hollak; André B P van Kuilenburg; Frédéric M Vaz; Einar Svarstad
Journal:  Clin J Am Soc Nephrol       Date:  2017-06-16       Impact factor: 8.237

2.  A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy.

Authors:  Alexandrea Holmes; Dawn Laney
Journal:  JIMD Rep       Date:  2015-02-22

3.  Imbalanced Production of Reactive Oxygen Species and Mitochondrial Antioxidant SOD2 in Fabry Disease-Specific Human Induced Pluripotent Stem Cell-Differentiated Vascular Endothelial Cells.

Authors:  Wei-Lien Tseng; Shih-Jie Chou; Huai-Chih Chiang; Mong-Lien Wang; Chian-Shiu Chien; Kuan-Hsuan Chen; Hsin-Bang Leu; Chien-Ying Wang; Yuh-Lih Chang; Yung-Yang Liu; Yuh-Jyh Jong; Shinn-Zong Lin; Shih-Hwa Chiou; Shing-Jong Lin; Wen-Chung Yu
Journal:  Cell Transplant       Date:  2016-12-06       Impact factor: 4.064

Review 4.  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

5.  Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes.

Authors:  Teruo Kitagawa; Ken Suzuki; Nobuyuki Ishige; Toya Ohashi; Masahisa Kobayashi; Yoshikatsu Eto; Akemi Tanaka; Hideo Odaka; Misao Owada
Journal:  Pediatr Nephrol       Date:  2008-06-06       Impact factor: 3.714

6.  The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.

Authors:  J P Oliveira; S Ferreira; C Reguenga; F Carvalho; J-E Månsson
Journal:  J Inherit Metab Dis       Date:  2008-11-03       Impact factor: 4.982

Review 7.  Glucocerebrosidase is shaking up the synucleinopathies.

Authors:  Marina Siebert; Ellen Sidransky; Wendy Westbroek
Journal:  Brain       Date:  2014-02-14       Impact factor: 13.501

8.  Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice.

Authors:  Jarmila Lakomá; Roberto Rimondini; Vincenzo Donadio; Rocco Liguori; Marco Caprini
Journal:  PLoS One       Date:  2014-10-22       Impact factor: 3.240

9.  Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.

Authors:  Hui-Yung Song; Huai-Chih Chiang; Wei-Lien Tseng; Ping Wu; Chian-Shiu Chien; Hsin-Bang Leu; Yi-Ping Yang; Mong-Lien Wang; Yuh-Jyh Jong; Chung-Hsuan Chen; Wen-Chung Yu; Shih-Hwa Chiou
Journal:  Int J Mol Sci       Date:  2016-12-13       Impact factor: 5.923

10.  Genetic variants associated with Fabry disease progression despite enzyme replacement therapy.

Authors:  Francesca Scionti; Maria Teresa Di Martino; Simona Sestito; Angela Nicoletti; Francesca Falvo; Katia Roppa; Mariamena Arbitrio; Pietro Hiram Guzzi; Giuseppe Agapito; Antonio Pisani; Eleonora Riccio; Daniela Concolino; Licia Pensabene
Journal:  Oncotarget       Date:  2017-11-18
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