Next generation sequencing as a follow-up test in an expanded newborn screening programme. [electronic resource]
Producer: 20180404Description: 48-55 p. digitalISSN:- 1873-2933
- 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
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Publication Type: Journal Article
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