Expanded newborn screening in New South Wales: missed cases

Journal of Inherited Metabolic Disease

Volumn 37, Issue 6, 2014, Pages 881-887

  Estrella, Jane ^c   Wilcken, Bridget ^a,b   Carpenter, Kevin ^a,b   Bhattacharya, Kaustuv ^a   Tchan, Michel ^b,c   Wiley, Veronica ^a,b  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c WESTMEAD HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYL COENZYME A ACYLTRANSFERASE; ACYL COENZYME A DEHYDROGENASE; AMINO ACID; CARBOXYLIC ACID; COBALAMIN; FATTY ACID; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ACIDEMIA; AMINOACIDURIA; ARGINOSUCCINIC ACIDURIA; ARTICLE; AUSTRALIA; BETA KETOTHIOLASE DEFICIENCY; CITRIN DEFICIENCY; CLINICAL FEATURE; COBALAMIN C DEFECT; CYANOCOBALAMIN DEFICIENCY; DIAGNOSTIC ERROR; DIAGNOSTIC TEST ACCURACY STUDY; EXPANDED NEWBORN SCREENING; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FATTY ACID OXIDATION; HOMOCYSTINURIA; HUMAN; INBORN ERROR OF METABOLISM; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; PREDICTIVE VALUE; REFERENCE VALUE; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; AMINO ACID METABOLISM, INBORN ERRORS; BLOOD; BRAIN DISEASES, METABOLIC; DEFICIENCY; INFANT; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; PRESCHOOL CHILD; PROCEDURES;

ACETYL-COA C-ACYLTRANSFERASE; ACYL-COA DEHYDROGENASE, LONG-CHAIN; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; BRAIN DISEASES, METABOLIC; CHILD, PRESCHOOL; DIAGNOSTIC ERRORS; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; NEONATAL SCREENING; NEW SOUTH WALES; REFERENCE VALUES; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

EID: 84912017953     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9727-2     Document Type: Article

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