Literature DB >> 19428279

Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

Christiane Auray-Blais, David S Millington, Caroline Barr, Sarah P Young, Kevin Mills, Joe T R Clarke.   

Abstract

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Year:  2009        PMID： 19428279     DOI： 10.1016/j.ymgme.2009.04.006

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  6 in total

1.  Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease.

Authors:  Martina Gaggl; Marlene Hofer; Stefanie Weidner; Julia Kleinert; Günter Fauler; Manfred Wallner; Peter Kotanko; Eduard Paschke; Gere Sunder-Plassmann
Journal:  J Nephrol       Date:  2015-04-10       Impact factor: 3.902

2.  Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Authors:  Susana Ferreira; Christiane Auray-Blais; Michel Boutin; Pamela Lavoie; José Pedro Nunes; Elisabete Martins; Scott Garman; João Paulo Oliveira
Journal:  Clin Chim Acta       Date:  2015-06-09       Impact factor: 3.786

3.  Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.

Authors:  Zdenek Spacil; Arun Babu Kumar; Hsuan-Chieh Liao; Christiane Auray-Blais; Samantha Stark; Teryn R Suhr; C Ronald Scott; Frantisek Turecek; Michael H Gelb
Journal:  Clin Chem       Date:  2015-11-19       Impact factor: 8.327

Review 4.  Fabry disease and kidney involvement: starting from childhood to understand the future.

Authors:  Roberto Chimenz; Valeria Chirico; Caterina Cuppari; Giorgia Ceravolo; Daniela Concolino; Paolo Monardo; Antonio Lacquaniti
Journal:  Pediatr Nephrol       Date:  2021-04-30       Impact factor: 3.651

5.  A pilot study of circulating microRNAs as potential biomarkers of Fabry disease.

Authors:  Giuseppe Cammarata; Simone Scalia; Paolo Colomba; Carmela Zizzo; Antonio Pisani; Eleonora Riccio; Michaela Montalbano; Riccardo Alessandro; Antonello Giordano; Giovanni Duro
Journal:  Oncotarget       Date:  2018-06-08

6.  Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

Authors:  Dominique P Germain; Roberto Giugliani; Derralynn A Hughes; Atul Mehta; Kathy Nicholls; Laura Barisoni; Charles J Jennette; Alexander Bragat; Jeff Castelli; Sheela Sitaraman; David J Lockhart; Pol F Boudes
Journal:  Orphanet J Rare Dis       Date:  2012-11-24       Impact factor: 4.123
  6 in total

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