摘要
Identification of homocystinuric newborns is hindered by the pitfalls of neonatal screening programs. We propose a fluorimetric HPLC method with a rapid pre-analytical step for homocysteine determination from neonatal dried blood spot cards. Homocysteine in blood spots sampled among 2000 healthy newborns on living day 4, averaged 2.92±2.07 μM (range 0.4–7.5). In eight homocystinuric control children, mean values were 61.71±52.84 μM (range 18.9–145.7). The method showed a good linearity (r