The National Austrian Newborn Screening Program - Eight years experience with mass spectrometry. Past, present, and future goals

Wiener Klinische Wochenschrift

Volumn 122, Issue 21-22, 2010, Pages 607-613

  Kasper, David C ^a,b   Ratschmann, Rene ^a   Metz, Thomas F ^a,b   Mechtler, Thomas P ^a,b   Möslinger, Dorothea ^a   Konstantopoulou, Vassiliki ^a   Item, Chike B ^a,b   Pollak, Arnold ^a,b   Herkner, Kurt R ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Laboratory for Inherited Metabolic Disorders   (Austria)

Author keywords

Inborn errors of metabolism; Inherited metabolic disorders; National Austrian Newborn Screening Program; Tandem mass spectrometry

Indexed keywords

2 METHYLBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; 3 METHYLGLUTACONIC ACIDURIA TYPE 1; ACETYL COENZYME A ACYLTRANSFERASE DEFICIENCY; ACIDEMIA; ACIDURIA; ARGININOSUCCINIC ACIDURIA; ARTICLE; AUSTRIA; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CITRULLINEMIA; DIAGNOSTIC TEST ACCURACY STUDY; ENZYME DEFICIENCY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; HEALTH CARE ORGANIZATION; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYPERPHENYLALANINEMIA; INFANT; ISOVALERIC ACIDEMIA; LONG CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE DEFICIENCY; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METHYLCROTONOYL COENZYME A CARBOXYLASE DEFICIENCY; METHYLMALONIC ACIDURIA; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PREVALENCE; PROPIONIC ACIDEMIA; PROTEIN DEFICIENCY; SYSTEMIC CARNITINE TRANSPORTER DEFICIENCY; TANDEM MASS SPECTROMETRY; TYROSINEMIA; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

AUSTRIA; BIOLOGICAL MARKERS; FEMALE; GOVERNMENT PROGRAMS; HUMANS; INFANT, NEWBORN; MALE; MASS SCREENING; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; PREVALENCE; RISK ASSESSMENT; RISK FACTORS;

EID: 78651394440     PISSN: 00435325     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00508-010-1457-3     Document Type: Article

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