Literature DB >> 5451124

The enzyme defect in Fabry's disease.

J A Kint.   

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Year:  1970        PMID: 5451124     DOI: 10.1038/2271173b0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


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  14 in total

1.  The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific.

Authors:  Susana Ferreira; Carlos Reguenga; João Paulo Oliveira
Journal:  JIMD Rep       Date:  2015-03-13

2.  Vascular dysfunction in the alpha-galactosidase A-knockout mouse is an endothelial cell-, plasma membrane-based defect.

Authors:  James L Park; Steven E Whitesall; Louis G D'Alecy; Liming Shu; James A Shayman
Journal:  Clin Exp Pharmacol Physiol       Date:  2008-06-18       Impact factor: 2.557

Review 3.  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

Review 4.  Fabry disease.

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

5.  Substrate-specific gene expression profiles in different kidney cell types are associated with Fabry disease.

Authors:  Youn-Jeong Shin; Yeo Jin Jeon; Namhee Jung; Joo-Won Park; Hae-Young Park; Sung-Chul Jung
Journal:  Mol Med Rep       Date:  2015-07-01       Impact factor: 2.952

6.  Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy.

Authors:  Suhail Al-Salam; Ahmed Chaaban; Fatima Al-Jasmi; Kerstin Amann; Samra Abouchacra
Journal:  Clin Kidney J       Date:  2012-10

7.  Pharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjects.

Authors:  Hiroko Ino; Naoki Takahashi; Takumi Terao; Paul N Mudd; Toshiyasu Hirama
Journal:  J Drug Assess       Date:  2013-07-24

8.  Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.

Authors:  Elisabeth Fabian; Dietmar Schiller; Hermann Toplak; Michaela Brunner-Krainz; Franz Fazekas; Rainer Schoefl; Guenter J Krejs
Journal:  Wien Klin Wochenschr       Date:  2017-11-21       Impact factor: 1.704

9.  Initially Nondiagnosed Fabry's Disease when Electron Microscopy Is Lacking: The Continuing Story of Focal and Segmental Glomerulosclerosis.

Authors:  H Trimarchi; A Karl; M S Raña; M Forrester; V Pomeranz; F Lombi; A Iotti
Journal:  Case Rep Nephrol Urol       Date:  2013-05-04

10.  Possible role of transforming growth factor-β1 and vascular endothelial growth factor in Fabry disease nephropathy.

Authors:  Mi Hee Lee; Eun Nam Choi; Yeo Jin Jeon; Sung-Chul Jung
Journal:  Int J Mol Med       Date:  2012-09-24       Impact factor: 4.101

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