Smon, Andraz <br/><br/>
Next generation sequencing as a follow-up test in an expanded newborn screening programme.  [electronic resource] 

 -  Clinical biochemistry  Feb 2018 
 - 48-55 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1873-2933 
<br/><br/><label>Standard No.: </label>10.1016/j.clinbiochem.2017.10.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acyl-CoA Dehydrogenase, Long-Chain--deficiency<br/>Amino Acid Metabolism, Inborn Errors--diagnosis<br/>Brain Diseases, Metabolic--diagnosis<br/>Carbon-Carbon Ligases--deficiency<br/>Congenital Bone Marrow Failure Syndromes<br/>Female<br/>Follow-Up Studies<br/>Glutaryl-CoA Dehydrogenase--deficiency<br/>High-Throughput Nucleotide Sequencing--methods<br/>Humans<br/>Infant, Newborn<br/>Lipid Metabolism, Inborn Errors--diagnosis<br/>Male<br/>Metabolism, Inborn Errors--diagnosis<br/>Mitochondrial Diseases--diagnosis<br/>Muscular Diseases--diagnosis<br/>Neonatal Screening--methods<br/>Pilot Projects<br/>Slovenia<br/>Tandem Mass Spectrometry--methods<br/>Urea Cycle Disorders, Inborn--diagnosis