Selective screening in neonates suspected to have inborn errors of metabolism

Author:

Shawky Rabah M.,Abd-Elkhalek Heba Salah,Elakhdar Samah Elyamani

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical)

Reference22 articles.

1. Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia;Deodato;Acta Paediatr Suppl,2004

2. Tandem mass spectrometry: the tool of choice for diagnosing inborn errors of metabolism?;Clarke;Br J Biomed Sci,2002

3. Analysis of organic acid markers relevant to inherited metabolic diseases by ultra-performance liquid chromatography/tandem mass spectrometry as benzofurazan derivatives;Al-Dirbashi;Rapid Commun Mass Spectr,2007

4. Four years of expanded newborn screening in Portugal with tandem mass spectrometry;Vilarinho;J Inherit Metab Dis,2010

5. Screening for some inborn errors of amino acid metabolism which impair mental function;Shawky;Egypt J Med Hum Genet,2001

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