title: Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.
authors.affiliation: Children's Hospital of Eastern Ontario, Canada.
authors.forename: Osama Y
authors.initials: OY
authors.lastname: Al-Dirbashi
authors.forename: Lawrence
authors.initials: L
authors.lastname: Fisher
authors.forename: Christine
authors.initials: C
authors.lastname: McRoberts
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
authors.forename: Michael
authors.initials: M
authors.lastname: Geraghty
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
mesh_terms: D000596:Amino Acids / Q000032:analysis*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000032:analysis; D006537:Heptanoates / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000175:diagnosis* / Q000378:metabolism; D008107:Liver Diseases / Q000175:diagnosis* / Q000378:metabolism; D015997:Neonatal Screening / Q000379:methods*; D053719:Tandem Mass Spectrometry; D020176:Tyrosinemias / Q000175:diagnosis* / Q000378:metabolism
chemical_list: D000596:Amino Acids; D006537:Heptanoates; C116917:acylcarnitine; C020804:succinylacetone; D002331:Carnitine