Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms.
Fingerhut
Ralph
R
Simon
Eva
E
Maier
Esther M
EM
Hennermann
Julia B
JB
Wendel
Udo
U
D006801:Humans; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000145:classification / Q000175:diagnosis*; D021241:Spectrometry, Mass, Electrospray Ionization; D053719:Tandem Mass Spectrometry