Newborn screening for galactosemia: A review of 5 years of data and audit of a revised reporting approach

Clinical Chemistry

Volumn 56, Issue 3, 2010, Pages 437-444

  Freer, Dennis E ^a   Ficicioglu, Can ^b   Finegold, David ^c  

^a PERKINELMER INC   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

CLINICAL ARTICLE; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FALSE POSITIVE RESULT; FOLLOW UP; GALACTOSEMIA; GENE MUTATION; HEALTH CARE UTILIZATION; HUMAN; MEDICAL AUDIT; MEDICAL RECORD; MEDICAL RECORD REVIEW; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PATIENT REFERRAL; PREDICTION; REVIEW;

DNA; GALACTOSE; GALACTOSEMIAS; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 77649212031     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2009.135947     Document Type: Review

References (9)

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