Literature DB >> 29098401

Proteinuria in a male adolescent with hearing loss: Answers.

Gülşah Kaya Aksoy1, Elif Çomak2, Bahar Akkaya3, Mustafa Koyun2, Sema Akman2.   

Abstract

Entities:  

Keywords:  Alpha-galactosidase A; Fabry disease; Hearing loss; Mutation analysis; Proteinuria; Renal involvement

Mesh：

Substances：

Year:  2017        PMID： 29098401     DOI： 10.1007/s00467-017-3825-y

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


× No keyword cloud information.
  13 in total

1.  Renal changes in heterozygous Fabry's disease--a family study.

Authors:  H C Chen; J H Tsai; Y H Lai; J Y Guh
Journal:  Am J Kidney Dis       Date:  1990-02       Impact factor: 8.860

2.  Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.

Authors:  Eduard Paschke; Guenter Fauler; Heimo Winkler; Axel Schlagenhauf; Barbara Plecko; Wolfgang Erwa; Frank Breunig; Wolfgang Urban; Bojan Vujkovac; Gere Sunder-Plassmann; Peter Kotanko
Journal:  Am J Kidney Dis       Date:  2010-12-24       Impact factor: 8.860

3.  Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers.

Authors:  Gabor E Linthorst; Anouk C Vedder; Johannes M F G Aerts; Carla E M Hollak
Journal:  Clin Chim Acta       Date:  2005-03       Impact factor: 3.786

4.  Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.

Authors:  Andreas Gal; Derralynn A Hughes; Bryan Winchester
Journal:  J Inherit Metab Dis       Date:  2011-01-13       Impact factor: 4.982

5.  Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

Authors:  A Mehta; R Ricci; U Widmer; F Dehout; A Garcia de Lorenzo; C Kampmann; A Linhart; G Sunder-Plassmann; M Ries; M Beck
Journal:  Eur J Clin Invest       Date:  2004-03       Impact factor: 4.686

Review 6.  The management and treatment of children with Fabry disease: A United States-based perspective.

Authors:  Robert J Hopkin; John L Jefferies; Dawn A Laney; Victoria H Lawson; Michael Mauer; Matthew R Taylor; William R Wilcox
Journal:  Mol Genet Metab       Date:  2015-10-23       Impact factor: 4.797

Review 7.  Paediatric Fabry disease.

Authors:  Carolyn Ellaway
Journal:  Transl Pediatr       Date:  2016-01

Review 8.  Fabry disease.

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

Review 9.  Is it Fabry disease?

Authors:  Raphael Schiffmann; Maria Fuller; Lorne A Clarke; Johannes M F G Aerts
Journal:  Genet Med       Date:  2016-05-19       Impact factor: 8.822

Review 10.  Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?

Authors:  Stephen Waldek; Sandro Feriozzi
Journal:  BMC Nephrol       Date:  2014-05-06       Impact factor: 2.388
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.