{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:54:39Z","timestamp":1790805279433,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,11,12]],"date-time":"2007-11-12T00:00:00Z","timestamp":1194825600000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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 \u00b110; range 7.0\u201310.6 mU\/ml; <jats:italic>n<\/jats:italic>=6). We found an increased biotinidase activity in patients with GSD Ia (17.7 \u00b13.9; range: 11.4\u201324.8; <jats:italic>n<\/jats:italic>=21), GSD I non\u2010a (20.9 \u00b15.6; range 14.6\u201326.0; <jats:italic>n<\/jats:italic>=4), GSD III (12.5 \u00b1\u20133.6; range 7.8\u201319.1; <jats:italic>n<\/jats:italic>=3), GSD VI (15.4 \u00b1\u20132.0; range 14.1\u201317.7; <jats:italic>n<\/jats:italic>=) and GSD IX (14.0 \u00b1\u20133.8; range: 7.5\u201321.6; <jats:italic>n<\/jats:italic>=22). The sensitivity of this test was 100% for patients with GSD Ia, GSD I non\u2010a 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\u2013Bickel Syndrome (15.3 \u00b1\u20133.7; range 11.0\u201319.4). Taken together, we propose serum biotinidase as a diagnostic biomarker for hepatic glycogen storage disorders.<\/jats:p>","DOI":"10.1007\/s10545-007-0734-4","type":"journal-article","created":{"date-parts":[[2007,11,9]],"date-time":"2007-11-09T21:53:23Z","timestamp":1194645203000},"page":"896-902","source":"Crossref","is-referenced-by-count":24,"title":["Elevated serum biotinidase activity in hepatic glycogen storage disorders\u2013A convenient biomarker"],"prefix":"10.1002","volume":"30","author":[{"given":"P.","family":"Paesold\u2010Burda","sequence":"first","affiliation":[{"name":"Division of Metabolism and Molecular Pediatrics University Children's Hospital Steinwiesstrasse 75 Zurich CH\u20108032 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Molecular Pediatrics University Children's Hospital Steinwiesstrasse 75 Zurich CH\u20108032 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Santer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. U.","family":"Bosshard","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Molecular Pediatrics University Children's Hospital Steinwiesstrasse 75 Zurich CH\u20108032 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Steinmann","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Molecular Pediatrics University Children's Hospital Steinwiesstrasse 75 Zurich CH\u20108032 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,11,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799431"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(90)90326-N"},{"key":"e_1_2_1_4_1","first-page":"1","article-title":"Glycogen storage disease","volume":"13","author":"Hers HG","year":"1964","journal-title":"Adv Metab Disord"},{"key":"e_1_2_1_5_1","first-page":"203A","article-title":"Increased serum biotinidase activity in glycogen storage disease type Ia","volume":"35","author":"Hug G","year":"1994","journal-title":"Pediatr Res"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(96)06396-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj1470023"},{"key":"e_1_2_1_8_1","unstructured":"Nennstiel\u2010RatzelU BlankensteinO CeglarekU StarkeI StoppsackM RauterbergE SchulzeA(2004)National Screening Report 2004 DGNS (German Association for Newborn Screening)."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-200201000-00014"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2000.02222.x"},{"key":"e_1_2_1_11_1","first-page":"191","article-title":"The estimation of glycogen with the anthrone reagent","volume":"25","author":"Seifter S","year":"1950","journal-title":"Arch Biochem"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1967.tb00135.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90096-7"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009949.65855.4c"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0734-4","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0734-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:42:35Z","timestamp":1694752955000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0734-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1007\/s10545-007-0734-4"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0734-4","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11]]}}}