Bonilla Guerrero, R

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