Jürgen Okun

Latest

• Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
• The quantification of 3-O-methyldopa in dried blood spots enables high-throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency
• High Throughput Newborn Screening for Aromatic L-amino-acid Decarboxylase Deficiency by Analysis of Concentrations of 3-O-methyldopa From Dried Blood Spots