Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Smon, Andraz

Next generation sequencing as a follow-up test in an expanded newborn screening programme. [electronic resource] - Clinical biochemistry Feb 2018 - 48-55 p. digital

Publication Type: Journal Article

1873-2933

10.1016/j.clinbiochem.2017.10.016 doi


Acyl-CoA Dehydrogenase, Long-Chain--deficiency
Amino Acid Metabolism, Inborn Errors--diagnosis
Brain Diseases, Metabolic--diagnosis
Carbon-Carbon Ligases--deficiency
Congenital Bone Marrow Failure Syndromes
Female
Follow-Up Studies
Glutaryl-CoA Dehydrogenase--deficiency
High-Throughput Nucleotide Sequencing--methods
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors--diagnosis
Male
Metabolism, Inborn Errors--diagnosis
Mitochondrial Diseases--diagnosis
Muscular Diseases--diagnosis
Neonatal Screening--methods
Pilot Projects
Slovenia
Tandem Mass Spectrometry--methods
Urea Cycle Disorders, Inborn--diagnosis