Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. [electronic resource]
- Journal of inherited metabolic disease Dec 2008
- S453-6 p. digital
Publication Type: Case Reports; Journal Article
1573-2665
10.1007/s10545-008-1039-y doi
Amino Acid Metabolism, Inborn Errors--blood Biomarkers--blood DNA Mutational Analysis Fatty Acids, Essential--blood Humans Infant Infant, Newborn Isovaleryl-CoA Dehydrogenase--blood Male Neonatal Screening Nutrition Assessment Peroxisomal Disorders--blood Predictive Value of Tests