Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference11 articles.
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2. Nontransplant treatment of trosinemia;Holme;Clin. Liver Dis.,2000
3. NTBC treatment in tyrosinaemia type I: long-term outcome in French patients;Masurel-Paulet;J. Inherit. Metab. Dis.,2008
4. Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry;Al-Dirbashi;J. Chromatogr. B Analyt. Technol. Biomed. Life Sci.,2006
5. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I;Magera;Mol. Genet. Metab.,2006
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