Literature DB >> 32132142

The Changing Landscape of Fabry Disease.

Einar Svarstad1,2, Hans Peter Marti3,2.   

Abstract

Keywords:  Fabry disease; Fabry’s disease; adult; agalsidase α; agalsidase β; alphagalactosidase; angiokeratoma; cardiac myocytes; cardiovascular disease; cause of death; enzyme replacement therapy; female; follow-up studies; genetic renal disease; humans; kidney biopsy; kidney transplantation; longevity; male; podocyte; progression of renal failure; renal dialysis; renal function decline; vascular disease; vascular endothelium

Year:  2020        PMID： 32132142      PMCID： PMC7133143          DOI： 10.2215/CJN.09480819

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN： 1555-9041            Impact factor:   8.237


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  78 in total

1.  Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

Authors:  Mary H Branton; Raphael Schiffmann; Sharda G Sabnis; Gary J Murray; Jane M Quirk; Gheona Altarescu; Lev Goldfarb; Roscoe O Brady; James E Balow; Howard A Austin Iii; Jeffrey B Kopp
Journal:  Medicine (Baltimore)       Date:  2002-03       Impact factor: 1.889

2.  Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.

Authors:  Albina Nowak; Thomas Mechtler; David C Kasper; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2017-06-17       Impact factor: 4.797

Review 3.  Contribution of inflammatory pathways to Fabry disease pathogenesis.

Authors:  Paula Rozenfeld; Sandro Feriozzi
Journal:  Mol Genet Metab       Date:  2017-09-13       Impact factor: 4.797

4.  Why systematic literature reviews in Fabry disease should include all published evidence.

Authors:  Perry M Elliott; Dominique P Germain; Max J Hilz; Marco Spada; Christoph Wanner; Bruno Falissard
Journal:  Eur J Med Genet       Date:  2019-06-10       Impact factor: 2.708

5.  Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.

Authors:  Hitoshi Sakuraba; Tadayasu Togawa; Takahiro Tsukimura; Hiroshi Kato
Journal:  Clin Exp Nephrol       Date:  2017-12-29       Impact factor: 2.801

6.  Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

Authors:  Raphael Schiffmann; Hasan Askari; Margaret Timmons; Chevalia Robinson; William Benko; Roscoe O Brady; Markus Ries
Journal:  J Am Soc Nephrol       Date:  2007-04-04       Impact factor: 10.121

7.  Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease.

Authors:  Behzad Najafian; Einar Svarstad; Leif Bostad; Marie-Claire Gubler; Camilla Tøndel; Chester Whitley; Michael Mauer
Journal:  Kidney Int       Date:  2010-12-15       Impact factor: 10.612

8.  Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.

Authors:  Camilla Tøndel; Takahiro Kanai; Kristin Kampevold Larsen; Shuichi Ito; Juan Manuel Politei; David G Warnock; Einar Svarstad
Journal:  Nephron       Date:  2014-12-17       Impact factor: 2.847

9.  Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Authors:  Johannes M Aerts; Johanna E Groener; Sijmen Kuiper; Wilma E Donker-Koopman; Anneke Strijland; Roelof Ottenhoff; Cindy van Roomen; Mina Mirzaian; Frits A Wijburg; Gabor E Linthorst; Anouk C Vedder; Saskia M Rombach; Josanne Cox-Brinkman; Pentti Somerharju; Rolf G Boot; Carla E Hollak; Roscoe O Brady; Ben J Poorthuis
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-19       Impact factor: 11.205

10.  Female Fabry disease patients and X-chromosome inactivation.

Authors:  Patrycja Juchniewicz; Anna Kloska; Anna Tylki-Szymańska; Joanna Jakóbkiewicz-Banecka; Grzegorz Węgrzyn; Marta Moskot; Magdalena Gabig-Cimińska; Ewa Piotrowska
Journal:  Gene       Date:  2017-10-25       Impact factor: 3.688
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  10 in total

1.  Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.

Authors:  Marco Angelo Monte; Massimiliano Veroux; Margherita Stefania Rodolico; Valentina Losi; Luigi Di Pino; Rita Bella; Giuseppe Lanza; Ines Paola Monte
Journal:  Life (Basel)       Date:  2022-04-22

2.  The 30-year Natural History of Non-classic Fabry Disease with an R112H Mutation.

Authors:  Reiko Muto; Koji Inagaki; Noritoshi Kato; Shoichi Maruyama; Toshiyuki Akahori
Journal:  Intern Med       Date:  2021-11-20       Impact factor: 1.282

Review 3.  Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions.

Authors:  Ken Kok; Kimberley C Zwiers; Rolf G Boot; Hermen S Overkleeft; Johannes M F G Aerts; Marta Artola
Journal:  Biomolecules       Date:  2021-02-12

Review 4.  Deficiency in the Screening Process of Fabry Disease: Analysis of Chronic Kidney Patients Not on Dialysis.

Authors:  Yuri Battaglia; Fulvio Fiorini; Cristiano Azzini; Pasquale Esposito; Alessandro De Vito; Antonio Granata; Alda Storari; Renzo Mignani
Journal:  Front Med (Lausanne)       Date:  2021-02-09

5.  Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

Authors:  Federica Rossi; Einar Svarstad; Hassan Elsaid; Agnese Binaggia; Letizia Roggero; Sara Auricchio; Hans-Peter Marti; Federico Pieruzzi
Journal:  High Blood Press Cardiovasc Prev       Date:  2021-04-12

Review 6.  Renal Manifestations of Fabry Disease: A Narrative Review.

Authors:  Cassiano Augusto Braga Silva; José A Moura-Neto; Marlene Antônia Dos Reis; Osvaldo Merege Vieira Neto; Fellype Carvalho Barreto
Journal:  Can J Kidney Health Dis       Date:  2021-01-19

7.  Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype.

Authors:  Hassan O A Elsaid; Jessica Furriol; Maria Blomqvist; Mette Diswall; Sabine Leh; Naouel Gharbi; Jan Haug Anonsen; Janka Babickova; Camilla Tøndel; Einar Svarstad; Hans-Peter Marti; Maximilian Krause
Journal:  Mol Genet Metab Rep       Date:  2022-02-17

8.  Fabry Disease Associated With Antiglomerular Basement Membrane Disease: Chance or Consequence.

Authors:  George Terinte-Balcan; Zipporah Krishnasami; Blaithin A McMahon; J Charles Jennette
Journal:  Kidney Int Rep       Date:  2022-01-17

9.  The potential consequences of bidirectional promoter methylation on GLA and HNRNPH2 expression in Fabry disease phenotypes in a family of patients carrying a GLA deletion variant.

Authors:  Mohammed A Al-Obaide; Ibtisam I Al-Obaidi; Tetyana L Vasylyeva
Journal:  Biomed Rep       Date:  2022-06-24

10.  The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.

Authors:  Elena-Emanuela Rusu; Diana-Silvia Zilisteanu; Lucia-Mihaela Ciobotaru; Mihaela Gherghiceanu; Alexandru Procop; Ruxandra-Oana Jurcut; Adriana Octaviana Dulamea; Bogdan Marian Sorohan
Journal:  Biomedicines       Date:  2022-06-27
  10 in total

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