{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:52:11Z","timestamp":1790805131210,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2010,6,8]],"date-time":"2010-06-08T00:00:00Z","timestamp":1275955200000},"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":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Repeated evaluation of biotinidase (BTD) activity was carried out for a long\u2010term follow\u2010up in patients with hepatic glycogen storage diseases (GSDs). The results indicated inter\u2010intra variability among the GSD\u2010Ia, GSD\u2010III and GSD\u2010IX patients. In addition, a c.1330G&gt;C transversion in the <jats:italic>BTD<\/jats:italic> gene, resulting in a p.Asp444His substitution was detected in one allele of a GSD\u2010Ia patient with sustained normal enzyme activity. Thus far, it is necessary to be cautious in the interpretation of the results of BTD activity as a presumptive GSD diagnostic element. It is not known why plasma BTD activity increases in GSDs patients, or the clinical importance of the increment. When viewed from a global perspective, there are some lines of biotin biology that could indicate a relationship between BTD\u00b4s behavior and GSDs.<\/jats:p>","DOI":"10.1007\/s10545-010-9139-x","type":"journal-article","created":{"date-parts":[[2010,6,7]],"date-time":"2010-06-07T11:12:53Z","timestamp":1275909173000},"page":"289-294","source":"Crossref","is-referenced-by-count":8,"title":["Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook"],"prefix":"10.1002","volume":"33","author":[{"given":"Celia J.","family":"Angaroni","sequence":"first","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00e1tedra de Cl\u00ednica Pedi\u00e1trica, Facultad de Ciencias M\u00e9dicas Universidad Nacional de C\u00f3rdoba C\u00f3rdoba Argentina"},{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad Ferroviarios 1250 C\u00f3rdoba 5014 Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia N.","family":"Giner\u2010Ayala","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00e1tedra de Cl\u00ednica Pedi\u00e1trica, Facultad de Ciencias M\u00e9dicas Universidad Nacional de C\u00f3rdoba C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena P.","family":"Hill","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00e1tedra de Cl\u00ednica Pedi\u00e1trica, Facultad de Ciencias M\u00e9dicas Universidad Nacional de C\u00f3rdoba C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norberto B.","family":"Guelbert","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00e1tedra de Cl\u00ednica Pedi\u00e1trica, Facultad de Ciencias M\u00e9dicas Universidad Nacional de C\u00f3rdoba C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana E.","family":"Paschini\u2010Capra","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00e1tedra de Cl\u00ednica Pedi\u00e1trica, Facultad de Ciencias M\u00e9dicas Universidad Nacional de C\u00f3rdoba C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel Dodelson","family":"de Kremer","sequence":"additional","affiliation":[{"name":"Centro de Estudio de las Metabolopat\u00edas Cong\u00e9nitas, CEMECO, Hospital de Ni\u00f1os de la Sant\u00edsima Trinidad, C\u00e1tedra de Cl\u00ednica Pedi\u00e1trica, Facultad de Ciencias M\u00e9dicas Universidad Nacional de C\u00f3rdoba C\u00f3rdoba Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,6,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.06.010"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.011"},{"key":"e_1_2_6_4_1","first-page":"69","article-title":"Hallazgos in\u00e9ditos de la biotinidasa plasm\u00e1tica como marcador secundario en la glucogenosis tipo Ia. 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