Invention Grant
- Patent Title: Method of diagnosing galactosemia in neonatal screening
- Patent Title (中): 新生儿筛查中半乳糖血症诊断方法
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Application No.: US14443997Application Date: 2013-11-28
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Publication No.: US09410960B2Publication Date: 2016-08-09
- Inventor: Arieh Sierra Cohen
- Applicant: Statens Serum Institut
- Applicant Address: DK Copenhagen
- Assignee: Statens Serum Institut
- Current Assignee: Statens Serum Institut
- Current Assignee Address: DK Copenhagen
- Agency: Howson & Howson LLP
- Priority: DK201200767 20121203
- International Application: PCT/DK2013/000084 WO 20131128
- International Announcement: WO2014/086361 WO 20140612
- Main IPC: C12Q1/00
- IPC: C12Q1/00 ; G01N33/66 ; C12Q1/54 ; C12Q1/68

Abstract:
A method of diagnosing galactosemia in blood samples from neonates by determining GAL-1-P concentrations before 5-7 days of life is disclosed. The removal of interfering compounds allows a more specific and therefore more accurate determination of GAL-IP levels in newborn screening for galactosemia using mass spectrometry. This is of major importance when investigating samples from children that have not yet achieved a steady state of GAL-IP (i.e. before 5-7 day of life).
Public/Granted literature
- US20150293111A1 METHOD OF DIAGNOSING GALACTOSEMIA IN NEONATAL SCREENING Public/Granted day:2015-10-15
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