Role of mutation analysis for the diagnosis of inborn errors of metabolism.
Kinderspital Zurich, Division of Metabolism, Steinwiesstrasse 75, 8032 Zurich, Switzerland. Electronic address: Johannes.Haeberle@kispi.uzh.ch.
Johannes
J
Häberle
D004252:DNA Mutational Analysis; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D009154:Mutation