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The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

Standard

The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. / Lukacs, Z; Keil, A; Kohlschütter, Alfried; Beck, M; Mengel, E.

in: J INHERIT METAB DIS, Jahrgang 28, Nr. 5, 5, 2005, S. 803-805.

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

Harvard

Lukacs, Z, Keil, A, Kohlschütter, A, Beck, M & Mengel, E 2005, 'The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.', J INHERIT METAB DIS, Jg. 28, Nr. 5, 5, S. 803-805. <http://www.ncbi.nlm.nih.gov/pubmed/16151917?dopt=Citation>

APA

Lukacs, Z., Keil, A., Kohlschütter, A., Beck, M., & Mengel, E. (2005). The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. J INHERIT METAB DIS, 28(5), 803-805. [5]. http://www.ncbi.nlm.nih.gov/pubmed/16151917?dopt=Citation

Vancouver

Lukacs Z, Keil A, Kohlschütter A, Beck M, Mengel E. The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. J INHERIT METAB DIS. 2005;28(5):803-805. 5.

Bibtex

@article{f680970810a04abd8bd3b306e2daff57,
title = "The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.",
abstract = "Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of alpha-galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the beta-glucuronidase activity was frequently elevated. The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.",
author = "Z Lukacs and A Keil and Alfried Kohlsch{\"u}tter and M Beck and E Mengel",
year = "2005",
language = "Deutsch",
volume = "28",
pages = "803--805",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "5",

}

RIS

TY - JOUR

T1 - The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

AU - Lukacs, Z

AU - Keil, A

AU - Kohlschütter, Alfried

AU - Beck, M

AU - Mengel, E

PY - 2005

Y1 - 2005

N2 - Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of alpha-galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the beta-glucuronidase activity was frequently elevated. The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.

AB - Female heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of alpha-galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the beta-glucuronidase activity was frequently elevated. The ratio of alpha-galactosidase to beta-glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.

M3 - SCORING: Zeitschriftenaufsatz

VL - 28

SP - 803

EP - 805

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 5

M1 - 5

ER -