Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report

Ana Škaričić,Marija Zekušić,Ksenija Fumić,Dunja Rogić,Valentina Uroić,Danijela Petković Ramadža,Tamara Žigman,Ivo Barić

Clinical Mass Spectrometry（2019）

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摘要

•Early diagnosis and therapy of TYRSN1 is important since it may prevent fatal outcome.•TYRSN1 should be included in national newborn screening programs.•Screening markers from DBS could include tyrosine and SUAC, with genetic confirmation.•Regular plasma amino acid measurement enables therapy adjustment and monitoring of treatment efficacy.

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BSTFA+1%TCMS,CXP,CE,DBS,DP,ESI,EP,FAA,FAH,GC MS,GS1,GS2,HCl,LC-MS/MS,MRM,NBS,NTBC,PFBO,Q1,Q3,RCF,RP,SUAC,TIC,Tyr,Tyr_IS,TYRSN1

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