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Licensed Unlicensed Requires Authentication Published by De Gruyter July 1, 2020

Agreement of dried blood spot lyso-Gb3 concentrations obtained from different laboratories in patients with Fabry disease

Constantin Gatterer ORCID logo , Martina Gaggl ORCID logo , Gerald Mundigler ORCID logo , Paulus Rommer ORCID logo , Senta Graf ORCID logo and Gere Sunder-Plassmann ORCID logo EMAIL logo

Corresponding author: Gere Sunder-Plassmann, MD, Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria, Phone: +43 1 40400 45110, Fax: +43 1 40400 47270. E-mail:

Funding source: Sanofi Genzyme Austria

Funding source: Takeda (Shire) Austria

  1. Research funding: Dried blood spot cards were provided by Sanofi and Shire/Takeda.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: We included patients with GLA variants, who were enrolled in the KarMA study, which is a longitudinal study examining the cardiac changes over time in patients with Fabry disease (unique IRB identifier: 813/2010).


1. Aerts, JM, Groener, JE, Kuiper, S, Donker-Koopman, WE, Strijland, A, Ottenhoff, R, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008;105:2812–7. in Google Scholar

2. Olivera, S, Iñiguez, C, García-Fernández, L, Sierra, JL, Camón, AM, Menao, S, et al. Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson–Fabry’s disease. Mult Scler Relat Disord 2020;38. in Google Scholar

3. Polo, G, Burlina, AP, Ranieri, E, Colucci, F, Rubert, L, Pascarella, A, et al. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. Clin Chem Lab Med 2019;57:1863–74. in Google Scholar

4. Nowak, A, Mechtler, T, Kasper, DC, Desnick, RJ. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. Mol Genet Metab 2017;121:320–4. in Google Scholar

5. Nowak, A, Mechtler, TP, Desnick, RJ, Kasper, DC. Plasma LysoGb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Mol Genet Metab 2017;120:57–61. in Google Scholar

Received: 2020-04-25
Accepted: 2020-05-22
Published Online: 2020-07-01
Published in Print: 2020-10-25

© 2020 Walter de Gruyter GmbH, Berlin/Boston

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