Derks, T G J

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] - Journal of inherited metabolic disease Feb 2008 - 88-96 p. digital

Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

1573-2665

10.1007/s10545-007-0492-3 doi


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