A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Václavík J, Mádrová L, Kouřil Š, de Sousa J, Brumarová R, Janečková H, Jáčová J, Friedecký D, Knapková M, Kluijtmans LAJ, Grünert SC, Vaz FM, Janzen N, Wanders RJA, Wevers RA, Adam T.
Václavík J, et al. Among authors: kouril s.
JIMD Rep. 2020 Apr 14;54(1):79-86. doi: 10.1002/jmd2.12118. eCollection 2020 Jul.
JIMD Rep. 2020.
PMID: 32685354
Free PMC article.