Prenatal Diagnosis of Succinic Semialdehyde Dehydrogenase Deficiency: Increased Accuracy Employing DNA, Enzyme, and Metabolite Analyses

Autor: Hogema, B.M., Akaboshi, S., Taylor, M., Salomons, G.S., Jakobs, C., Schutgens, Ruud B., Wilcken, B., Worthington, S., Maropoulos, G., Grompe, M., Gibson, K.M.
Zdroj: In Molecular Genetics and Metabolism March 2001 72(3):218-222
Databáze: ScienceDirect