Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.
Al-Dirbashi
Osama Y
OY
Children's Hospital of Eastern Ontario, Canada.
Fisher
Lawrence
L
McRoberts
Christine
C
Siriwardena
Komudi
K
Geraghty
Michael
M
Chakraborty
Pranesh
P
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
D000596:Amino Acids; D006537:Heptanoates; C116917:acylcarnitine; C020804:succinylacetone; D002331:Carnitine