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dc.contributor.authorKaraca, Meryem
dc.date.accessioned2021-03-03T13:14:03Z
dc.date.available2021-03-03T13:14:03Z
dc.identifier.citationKaraca M., "Investigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency", TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.44, ss.482-486, 2019
dc.identifier.issn0250-4685
dc.identifier.othervv_1032021
dc.identifier.otherav_32c908bb-932c-41c0-8454-17517b6c48b6
dc.identifier.urihttp://hdl.handle.net/20.500.12627/38445
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/32c908bb-932c-41c0-8454-17517b6c48b6/file
dc.description.abstractBackground: Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological and dermatological complications. Biomarkers such as alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH), which are used to diagnose biotinidase deficiency, are also present. Materials and methods: In cases with partial biotinidase deficiency and normal biotinidase activity, alanine, C3 and C5-OH levels were compared in the field by liquid chromatography-tandem mass spectrometry. Results: There was no significant difference between subjects with partial biotinidase deficiency and those with normal biotinidase activity between C3 and C5-OH levels. The mean alanine levels in heel blood and plasma were significantly higher than those with normal biotinidase activity in patients with partial biotinidase deficiency. Conclusion: In cases with partial biotinidase deficiency, the heel blood alanine level that can be detected in the neonatal screening program may be a leading marker in diagnosis.
dc.language.isoeng
dc.subjectKlinik Tıp (MED)
dc.subjectSağlık Bilimleri
dc.titleInvestigation of alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH) levels in patients with partial biotinidase deficiency
dc.typeMakale
dc.relation.journalTURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI
dc.contributor.departmentİstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume44
dc.identifier.startpage482
dc.identifier.endpage486
dc.contributor.firstauthorID1233646


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