Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. [electronic resource]
Producer: 20080623Description: 88-96 p. digitalISSN:- 1573-2665
- Acyl Coenzyme A -- metabolism
- Acyl-CoA Dehydrogenase -- analysis
- Cells, Cultured
- DNA Mutational Analysis
- False Positive Reactions
- Follow-Up Studies
- Genotype
- Humans
- Infant, Newborn
- Leukocytes -- enzymology
- Lipid Metabolism, Inborn Errors -- diagnosis
- Lymphocytes -- enzymology
- Molecular Diagnostic Techniques -- standards
- Neonatal Screening
- Netherlands
- Pilot Projects
- Prevalence
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Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
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