dc.contributor.author | Karaaslan, I | |
dc.contributor.author | Demirkol, M | |
dc.contributor.author | Baykal, T | |
dc.contributor.author | Demir, F | |
dc.contributor.author | Laleli, Y | |
dc.contributor.author | Gokcay, Gülden Fatma | |
dc.date.accessioned | 2021-03-05T19:51:54Z | |
dc.date.available | 2021-03-05T19:51:54Z | |
dc.date.issued | 2004 | |
dc.identifier.citation | Baykal T., Karaaslan I., Gokcay G. F. , Demir F., Laleli Y., Demirkol M., "Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.27, ss.781-782, 2004 | |
dc.identifier.issn | 0141-8955 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_d143866a-52cb-497c-bbce-d6258340d31f | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/138330 | |
dc.identifier.uri | https://doi.org/10.1023/b:boli.0000045839.08631.9d | |
dc.description.abstract | Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated 'leucine' level in newborn screening by tandem mass spectrometry. | |
dc.language.iso | eng | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.title | Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF INHERITED METABOLIC DISEASE | |
dc.contributor.department | İstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp | |
dc.identifier.volume | 27 | |
dc.identifier.issue | 6 | |
dc.identifier.startpage | 781 | |
dc.identifier.endpage | 782 | |
dc.contributor.firstauthorID | 170452 | |