Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism

Steinbusch, LKM; Wang, P; Waterval, HWAH; Stassen, FAPM; Coene, KLM; Engelke, UFH; Habets, DDJ; Bierau, J; Korver-Keularts, IMLW

Korver-Keularts, IMLW (corresponding author), POB 5800, NL-6202 AZ Maastricht, Netherlands.

JOURNAL OF INHERITED METABOLIC DISEASE, 2021; 44 (5): 1113

Abstract

The current diagnostic work-up of inborn errors of metabolism (IEM) is rapidly moving toward integrative analytical approaches. We aimed to develop an......

Full Text Link