Literature DB >> 21211665

X-linked inheritance and its implication in the diagnosis and management of female patients in Fabry disease.

D P Germain1, K Benistan, L Angelova.   

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Year:  2010        PMID： 21211665     DOI： 10.1016/S0248-8663(10)70013-8

Source DB:  PubMed          Journal:  Rev Med Interne        ISSN： 0248-8663            Impact factor:   0.728


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  9 in total

1.  [Anterior segment findings with far-reaching consequences].

Authors:  V Besgen; P Seipelt; Y Wenner
Journal:  Ophthalmologe       Date:  2016-10       Impact factor: 1.059

Review 2.  Next-Generation Sequencing-Based Genetic Diagnostic Strategies of Inherited Kidney Diseases.

Authors:  Jiahui Zhang; Changming Zhang; Erzhi Gao; Qing Zhou
Journal:  Kidney Dis (Basel)       Date:  2021-09-29

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.  Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021.

Authors:  Cassiano Augusto Braga Silva; Luis Gustavo Modelli de Andrade; Maria Helena Vaisbich; Fellype de Carvalho Barreto
Journal:  J Bras Nefrol       Date:  2022 Apr-Jun

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.  The prevalence of Fabry disease in a statewide chronic kidney disease cohort - Outcomes of the aCQuiRE (Ckd.Qld fabRy Epidemiology) study.

Authors:  Andrew Mallett; Phoebe Jane Kearey; Anne Cameron; Helen G Healy; Charles Denaro; Mark Thomas; Vincent W Lee; Samantha Louise Stark; Maria Fuller; Zaimin Wang; Wendy E Hoy
Journal:  BMC Nephrol       Date:  2022-05-04       Impact factor: 2.585

8.  Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.

Authors:  Filippo Pinto E Vairo; Pavel N Pichurin; Fernando C Fervenza; Samih H Nasr; Kevin Mills; Christopher T Schmitz; Eric W Klee; Sandra M Herrmann
Journal:  BMC Nephrol       Date:  2020-08-13       Impact factor: 2.388

9.  The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.

Authors:  Andrew Mallett; Phoebe Kearey; Anne Cameron; Helen Healy; Charles Denaro; Mark Thomas; Vincent W Lee; Samantha Stark; Maria Fuller; Wendy E Hoy
Journal:  BMC Nephrol       Date:  2020-02-22       Impact factor: 2.388
  9 in total

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