Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids

Clinical Biochemistry

Volumn 43, Issue 7-8, 2010, Pages 691-693

  Al Dirbashi, Osama Y ^a,b   Fisher, Lawrence ^a   McRoberts, Christine ^a   Siriwardena, Komudi ^c   Geraghty, Michael ^a,b   Chakraborty, Pranesh ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; AMINO ACID; AMINOTRANSFERASE; NITISINONE; PHENYLALANINE; SUCCINYLACETONE; TYROSINE;

ANALYTIC METHOD; ARTICLE; CASE REPORT; DIAGNOSTIC ACCURACY; DIET RESTRICTION; FEMALE; HEPATORENAL TYROSINEMIA; HUMAN; HYPERBILIRUBINEMIA; JAUNDICE; LIVER FUNCTION; NEWBORN; NEWBORN SCREENING; PATIENT REFERRAL; PRIORITY JOURNAL; RISK ASSESSMENT; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

AMINO ACIDS; CARNITINE; HEPTANOATES; HUMANS; INFANT, NEWBORN; KIDNEY DISEASES; LIVER DISEASES; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY; TYROSINEMIAS;

EID: 77951204836     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2009.10.004     Document Type: Article

References (11)

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