An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis
Titel:
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis
Auteur:
Starosta, Rodrigo T. Larson, Austin A. Meeks, Naomi J.L. Gracie, Sara Friederich, Marisa W. Gaughan, Sommer M. Baker II, Peter R. Knupp, Kelly G. Michel, Cole R. Reisdorph, Richard Hock, Daniella H. Stroud, David A. Wood, Tim Van Hove, Johan L.K.