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Diagnostic strategy for females suspected of Fabry disease

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Diagnostic strategy for females suspected of Fabry disease. / Balendran, Sukirthini; Oliva, Petra; Sansen, Stefaan; Mechtler, Thomas P; Streubel, Berthold; Cobos, Paulina N; Lukacs, Zoltan; Kasper, David C.

in: CLIN GENET, Jahrgang 97, Nr. 4, 04.2020, S. 655-660.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Balendran, S, Oliva, P, Sansen, S, Mechtler, TP, Streubel, B, Cobos, PN, Lukacs, Z & Kasper, DC 2020, 'Diagnostic strategy for females suspected of Fabry disease', CLIN GENET, Jg. 97, Nr. 4, S. 655-660. https://doi.org/10.1111/cge.13694

APA

Balendran, S., Oliva, P., Sansen, S., Mechtler, T. P., Streubel, B., Cobos, P. N., Lukacs, Z., & Kasper, D. C. (2020). Diagnostic strategy for females suspected of Fabry disease. CLIN GENET, 97(4), 655-660. https://doi.org/10.1111/cge.13694

Vancouver

Balendran S, Oliva P, Sansen S, Mechtler TP, Streubel B, Cobos PN et al. Diagnostic strategy for females suspected of Fabry disease. CLIN GENET. 2020 Apr;97(4):655-660. https://doi.org/10.1111/cge.13694

Bibtex

@article{03d37567a6da474db7ef9f3584df009e,
title = "Diagnostic strategy for females suspected of Fabry disease",
abstract = "A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso-GL-3 (lyso-Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97% positive predictive value [PPV], similar to PPV in males). In cases with one abnormal biochemical value, elevated lyso-GL-3 is a far more important indicator than low enzyme activity (39% PPV vs 6% PPV). Cases with clearly negative results for both biochemical parameters are unlikely to have Fabry disease, even in clinically highly suspicious cases.",
author = "Sukirthini Balendran and Petra Oliva and Stefaan Sansen and Mechtler, {Thomas P} and Berthold Streubel and Cobos, {Paulina N} and Zoltan Lukacs and Kasper, {David C}",
note = "{\textcopyright} 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2020",
month = apr,
doi = "10.1111/cge.13694",
language = "English",
volume = "97",
pages = "655--660",
journal = "CLIN GENET",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",

}

RIS

TY - JOUR

T1 - Diagnostic strategy for females suspected of Fabry disease

AU - Balendran, Sukirthini

AU - Oliva, Petra

AU - Sansen, Stefaan

AU - Mechtler, Thomas P

AU - Streubel, Berthold

AU - Cobos, Paulina N

AU - Lukacs, Zoltan

AU - Kasper, David C

N1 - © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2020/4

Y1 - 2020/4

N2 - A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso-GL-3 (lyso-Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97% positive predictive value [PPV], similar to PPV in males). In cases with one abnormal biochemical value, elevated lyso-GL-3 is a far more important indicator than low enzyme activity (39% PPV vs 6% PPV). Cases with clearly negative results for both biochemical parameters are unlikely to have Fabry disease, even in clinically highly suspicious cases.

AB - A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso-GL-3 (lyso-Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97% positive predictive value [PPV], similar to PPV in males). In cases with one abnormal biochemical value, elevated lyso-GL-3 is a far more important indicator than low enzyme activity (39% PPV vs 6% PPV). Cases with clearly negative results for both biochemical parameters are unlikely to have Fabry disease, even in clinically highly suspicious cases.

U2 - 10.1111/cge.13694

DO - 10.1111/cge.13694

M3 - SCORING: Journal article

C2 - 31860127

VL - 97

SP - 655

EP - 660

JO - CLIN GENET

JF - CLIN GENET

SN - 0009-9163

IS - 4

ER -