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Literature DB >> 24475406

Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Maria Dolores Sanchez-Niño¹, Alberto Ortiz².

Abstract

Keywords: Fabry disease; Fabry nephropathy; Kidney disease; Mutation

Year: 2012 PMID： 24475406 PMCID： PMC3886152 DOI： 10.5812/nephropathol.8110

Source DB: PubMed Journal: J Nephropathol ISSN： 2251-8363

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14 in total

1. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

Authors: Maria D Sanchez-Niño; Ana B Sanz; Susana Carrasco; Moin A Saleem; Peter W Mathieson; José M Valdivielso; Marta Ruiz-Ortega; Jesus Egido; Alberto Ortiz
Journal: Nephrol Dial Transplant Date: 2010-05-26 Impact factor: 5.992

2. High incidence of later-onset fabry disease revealed by newborn screening.

Authors: Marco Spada; Severo Pagliardini; Makiko Yasuda; Turgut Tukel; Geetha Thiagarajan; Hitoshi Sakuraba; Alberto Ponzone; Robert J Desnick
Journal: Am J Hum Genet Date: 2006-04-28 Impact factor: 11.025

3. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry.

Authors: Christoph Wanner; João P Oliveira; Alberto Ortiz; Michael Mauer; Dominique P Germain; Gabor E Linthorst; Andreas L Serra; László Maródi; Renzo Mignani; Bruno Cianciaruso; Bojan Vujkovac; Roberta Lemay; Dana Beitner-Johnson; Stephen Waldek; David G Warnock
Journal: Clin J Am Soc Nephrol Date: 2010-09-02 Impact factor: 8.237

4. 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

5. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.

Authors: Shoichiro Nakao; Chihaya Kodama; Toshihiro Takenaka; Akihiro Tanaka; Yuichiro Yasumoto; Aichi Yoshida; Tamotsu Kanzaki; Annette L D Enriquez; Christine M Eng; Hiromitsu Tanaka; Chuwa Tei; Robert J Desnick
Journal: Kidney Int Date: 2003-09 Impact factor: 10.612

6. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.

Authors: Alberto Ortiz; Bruno Cianciaruso; Marta Cizmarik; Dominique P Germain; Renzo Mignani; João Paulo Oliveira; Jacobo Villalobos; Bojan Vujkovac; Stephen Waldek; Christoph Wanner; David G Warnock
Journal: Nephrol Dial Transplant Date: 2009-10-21 Impact factor: 5.992

7. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

Authors: Alberto Ortiz; João P Oliveira; Steven Waldek; David G Warnock; Bruno Cianciaruso; Christoph Wanner
Journal: Nephrol Dial Transplant Date: 2008-01-05 Impact factor: 5.992

8. The MIF receptor CD74 in diabetic podocyte injury.

Authors: Maria Dolores Sanchez-Niño; Ana Belen Sanz; Pekka Ihalmo; Markus Lassila; Harry Holthofer; Sergio Mezzano; Claudio Aros; Per-Henrik Groop; Moin A Saleem; Peter W Mathieson; Robert Langham; Matthias Kretzler; Viji Nair; Kevin V Lemley; Robert G Nelson; Eero Mervaala; Deborah Mattinzoli; Maria Pia Rastaldi; Marta Ruiz-Ortega; Jose Luis Martin-Ventura; Jesus Egido; Alberto Ortiz
Journal: J Am Soc Nephrol Date: 2008-10-08 Impact factor: 10.121

9. A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.

Authors: Jorge H Mukdsi; Silvina Gutiérrez; Belén Barrón; Pablo Novoa; Segundo Fernández; Ana B de Diller; Alicia I Torres; Richard N Formica; Marcelo Orías
Journal: J Nephropathol Date: 2012-10-01

Review 10. Fabry disease.

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

7 in total

1. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.

Authors: Susana Ferreira; Alberto Ortiz; Dominique P Germain; Miguel Viana-Baptista; António Caldeira-Gomes; Marta Camprecios; Maria Fenollar-Cortés; Ángel Gallegos-Villalobos; Diego Garcia; José Antonio García-Robles; Jesús Egido; Eduardo Gutiérrez-Rivas; José Antonio Herrero; Sebastián Mas; Raluca Oancea; Paloma Péres; Luis Manuel Salazar-Martín; Jesús Solera-Garcia; Helena Alves; Scott C Garman; João Paulo Oliveira
Journal: Mol Genet Metab Date: 2014-11-09 Impact factor: 4.797

2. Significance of extracapillary proliferation in IgA-nephropathy patients with regard to clinical and histopathological variables.

Authors: M Rafieian-Kopaei; A Baradaran; H Nasri
Journal: Hippokratia Date: 2013-07 Impact factor: 0.471

6. Association of proteinuria with various clinical findings and morphologic variables of oxford classification in immunoglobulin a nephropathy patients.

Authors: Hamid Nasri; Yahya Madihi; Alireza Merrikhi; Allaleh Gheissari; Azar Baradaran; Soleiman Kheiri; Mahmoud Rafieian-Kopaei
Journal: Int J Prev Med Date: 2013-05

7. Commentary on: Is uric acid an indicator of metabolic syndrome in the first-degree relatives of patients with type 2 diabetes?

Authors: Hamid Nasri
Journal: J Res Med Sci Date: 2013-03 Impact factor: 1.852