{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:27:33Z","timestamp":1762003653496},"reference-count":6,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2003,12,1]],"date-time":"2003-12-01T00:00:00Z","timestamp":1070236800000},"content-version":"vor","delay-in-days":0,"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":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Summary:<\/jats:bold> We report two children who presented with symptoms suggestive of biotinidase deficiency. Rather than deficiency, markedly elevated serum biotinidase activities were found. Based upon literature reports of elevated biotinidase activities in children with glycogen storage disease (GSD) type Ia, we considered the latter in our differential diagnosis and subsequently confirmed GSD type Ia in both patients by enzymatic testing. GSD type Ia should be considered in children with markedly elevated serum biotinidase activity.<\/jats:p>","DOI":"10.1023\/b:boli.0000009949.65855.4c","type":"journal-article","created":{"date-parts":[[2003,12,23]],"date-time":"2003-12-23T10:36:49Z","timestamp":1072175809000},"page":"805-809","source":"Crossref","is-referenced-by-count":11,"title":["Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia"],"prefix":"10.1002","volume":"26","author":[{"given":"B.","family":"Wolf","sequence":"first","affiliation":[{"name":"Department of Pediatrics Connecticut Children's Medical Center and the University of Connecticut School of Medicine  Hartford Connecticut"},{"name":"Division of Research Connecticut Children's Medical Center  282 Washington St. Hartford CT 06106 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. L.","family":"Freehauf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics  Denver Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics  Denver Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. L.","family":"Gordon","sequence":"additional","affiliation":[{"name":"Cell and Gene Therapy St Jude Children's Research Hospital  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. L.","family":"Greene","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Children's National Medical Center  Washington DC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. C.","family":"Ward","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tennessee  Memphis Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799431"},{"key":"e_1_2_1_3_1","first-page":"1521","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen Y\u2010T","year":"2001"},{"key":"e_1_2_1_4_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_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2000.02222.x"},{"key":"e_1_2_1_6_1","first-page":"3935 3962","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Wolf B","year":"2001"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(83)90096-7"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FB%3ABOLI.0000009949.65855.4c","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/B%3ABOLI.0000009949.65855.4c","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:38:02Z","timestamp":1694781482000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/B%3ABOLI.0000009949.65855.4c"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12]]},"references-count":6,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1023\/B:BOLI.0000009949.65855.4c"],"URL":"https:\/\/doi.org\/10.1023\/b:boli.0000009949.65855.4c","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12]]}}}