title: Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
authors.affiliation: Division of Metabolic Disorders, CHOC Children's, Orange, CA 92868, USA.
authors.forename: R L
authors.initials: RL
authors.lastname: Puckett
authors.forename: F
authors.initials: F
authors.lastname: Lorey
authors.forename: P
authors.initials: P
authors.lastname: Rinaldo
authors.forename: M H
authors.initials: MH
authors.lastname: Lipson
authors.forename: D
authors.initials: D
authors.lastname: Matern
authors.forename: M E
authors.initials: ME
authors.lastname: Sowa
authors.forename: S
authors.initials: S
authors.lastname: Levine
authors.forename: R
authors.initials: R
authors.lastname: Chang
authors.forename: R Y
authors.initials: RY
authors.lastname: Wang
authors.forename: J E
authors.initials: JE
authors.lastname: Abdenur
mesh_terms: 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
chemical_list: D000597:Amino Acids, Branched-Chain; D007532:Isoleucine; D007930:Leucine