A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

VÁCLAVÍK, J., L. MÁDROVÁ, Š. KOUŘIL, J. DE SOUSA, R. BRUMAROVÁ, H. JANEČKOVÁ, J. FRIEDECKÁ, D. FRIEDECKÝ, M. KNAPKOVA, L. KLUIJTMANS, S. GRUNERT, F. VAZ, N. JANZEN, R. WANDERS, R. WEVERS, T. ADAM
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. JMID reports. 2020, 54(1), 79-86, ISSN: 2192-8312.