Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
Puckett
R L
RL
Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA.
Lorey
F
F
Rinaldo
P
P
Lipson
M H
MH
Matern
D
D
Sowa
M E
ME
Levine
S
S
Chang
R
R
Wang
R Y
RY
Abdenur
J E
JE
D000597:Amino Acids, Branched-Chain / Q000097:blood; D002648:Child; D002675:Child, Preschool; D018753:Diet, Protein-Restricted; D006801:Humans; D007231:Infant, Newborn; D007532:Isoleucine / Q000097:blood; D007930:Leucine / Q000097:blood; D008297:Male; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000235:genetics*; D015997:Neonatal Screening / Q000379:methods; D053719:Tandem Mass Spectrometry
D000597:Amino Acids, Branched-Chain; D007532:Isoleucine; D007930:Leucine