Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 281-293

  Lund, Allan Meldgaard ^a   Hougaard, David Michael ^b   Simonsen, Henrik ^b   Andresen, Brage Storstein ^c,d   Christensen, Mette ^a   Dunø, Morten ^a   Skogstrand, Kristin ^b   Olsen, Rikke K J ^d   Jensen, Ulrich Glümer ^e   Cohen, Arieh ^b   Larsen, Nanna ^b   Saugmann Jensen, Peter ^f   Gregersen, Niels ^d   Brandt, Niels Jacob ^a,b   Christensen, Ernst ^a   Skovby, Flemming ^a   Nørgaard Pedersen, Bent ^b  

^a Mental Health Center Glostrup   (Denmark)

^b STATENS SERUM INSTITUT   (Denmark)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

^e PerkinElmer Life Sciences ^*  (Denmark)

^f Sundhedsstyrelsen   (Denmark)

Author keywords

Expanded newborn screening; Metabolic disease; MS MS; Neonatal screening; Tandem mass spectrometry

Indexed keywords

BIOTINIDASE;

ARTICLE; CONTROLLED STUDY; DENMARK; ENZYME ACTIVITY; ENZYME ASSAY; EXPERIENCE; FALSE POSITIVE RESULT; FAROE ISLANDS; FEMALE; FOLLOW UP; GREENLAND; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MALE; MEDICAL EXAMINATION; MORBIDITY; NEWBORN; NEWBORN SCREENING; PILOT STUDY; PREDICTIVE VALUE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

BIOTINIDASE; CHILD; DENMARK; FALSE POSITIVE REACTIONS; FEMALE; GREENLAND; HUMANS; INFANT, NEWBORN; LONGITUDINAL STUDIES; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; PILOT PROJECTS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

EID: 84867897278     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.06.006     Document Type: Article

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