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Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

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Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker. / Paesold-Burda, P; Baumgartner, M R; Santer, René; Bosshard, N U; Steinmann, B.

In: J INHERIT METAB DIS, Vol. 30, No. 6, 6, 2007, p. 896-902.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Paesold-Burda, P, Baumgartner, MR, Santer, R, Bosshard, NU & Steinmann, B 2007, 'Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.', J INHERIT METAB DIS, vol. 30, no. 6, 6, pp. 896-902. <http://www.ncbi.nlm.nih.gov/pubmed/17994282?dopt=Citation>

APA

Paesold-Burda, P., Baumgartner, M. R., Santer, R., Bosshard, N. U., & Steinmann, B. (2007). Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker. J INHERIT METAB DIS, 30(6), 896-902. [6]. http://www.ncbi.nlm.nih.gov/pubmed/17994282?dopt=Citation

Vancouver

Paesold-Burda P, Baumgartner MR, Santer R, Bosshard NU, Steinmann B. Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker. J INHERIT METAB DIS. 2007;30(6):896-902. 6.

Bibtex

@article{9e459b00dbca4346b6b2db339ccd3e88,
title = "Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.",
abstract = "An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8.7 +/- 1.0; range 7.0-10.6 mU/ml; n = 26). We found an increased biotinidase activity in patients with GSD Ia (17.7 +/- 3.9; range: 11.4-24.8; n = 21), GSD I non-a (20.9 +/- 5.6; range 14.6-26.0; n = 4), GSD III (12.5 +/- 3.6; range 7.8-19.1; n = 13), GSD VI (15.4 +/- 2.0; range 14.1-17.7; n = 3) and GSD IX (14.0 +/- 3.8; range: 7.5-21.6; n = 22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. In addition, we found elevated biotinidase activity in all sera from 5 patients with Fanconi-Bickel Syndrome (15.3 +/- 3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders.",
author = "P Paesold-Burda and Baumgartner, {M R} and Ren{\'e} Santer and Bosshard, {N U} and B Steinmann",
year = "2007",
language = "Deutsch",
volume = "30",
pages = "896--902",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "6",

}

RIS

TY - JOUR

T1 - Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

AU - Paesold-Burda, P

AU - Baumgartner, M R

AU - Santer, René

AU - Bosshard, N U

AU - Steinmann, B

PY - 2007

Y1 - 2007

N2 - An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8.7 +/- 1.0; range 7.0-10.6 mU/ml; n = 26). We found an increased biotinidase activity in patients with GSD Ia (17.7 +/- 3.9; range: 11.4-24.8; n = 21), GSD I non-a (20.9 +/- 5.6; range 14.6-26.0; n = 4), GSD III (12.5 +/- 3.6; range 7.8-19.1; n = 13), GSD VI (15.4 +/- 2.0; range 14.1-17.7; n = 3) and GSD IX (14.0 +/- 3.8; range: 7.5-21.6; n = 22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. In addition, we found elevated biotinidase activity in all sera from 5 patients with Fanconi-Bickel Syndrome (15.3 +/- 3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders.

AB - An elevated serum biotinidase activity in patients with glycogen storage disease (GSD) type Ia has been reported previously. The aim of this work was to investigate the specificity of the phenomenon and thus we expanded the study to other types of hepatic GSDs. Serum biotinidase activity was measured in a total of 68 GSD patients and was compared with that of healthy controls (8.7 +/- 1.0; range 7.0-10.6 mU/ml; n = 26). We found an increased biotinidase activity in patients with GSD Ia (17.7 +/- 3.9; range: 11.4-24.8; n = 21), GSD I non-a (20.9 +/- 5.6; range 14.6-26.0; n = 4), GSD III (12.5 +/- 3.6; range 7.8-19.1; n = 13), GSD VI (15.4 +/- 2.0; range 14.1-17.7; n = 3) and GSD IX (14.0 +/- 3.8; range: 7.5-21.6; n = 22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. In addition, we found elevated biotinidase activity in all sera from 5 patients with Fanconi-Bickel Syndrome (15.3 +/- 3.7; range 11.0-19.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders.

M3 - SCORING: Zeitschriftenaufsatz

VL - 30

SP - 896

EP - 902

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 6

M1 - 6

ER -