Impact of new screening technologies: Should we screen and does phenotype influence this decision?

Journal of Inherited Metabolic Disease

Volumn 36, Issue 4, 2013, Pages 681-686

  Bonham, James Robert ^a  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; CARNITINE PALMITOYL TRANSFERASE 1 DEFICIENCY; CARNITINE PALMITOYL TRANSFERASE 2 DEFICIENCY; CLINICAL DECISION MAKING; CLINICAL FEATURE; CONFERENCE PAPER; ELECTROSPRAY MASS SPECTROMETRY; ENZYME DEFICIENCY; EUROPEAN UNION; FALSE POSITIVE RESULT; GENETIC ANALYSIS; GLUTARIC ACIDURIA TYPE 1; HEREDITARY TYROSINEMIA TYPE 1; HOMOCYSTINURIA; HUMAN; ISOVALERIC ACIDEMIA; LONG CHAIN HYDROXYL ACYL COA DEHYDROGENASE DEFICIENCY; MAPLE SYRUP URINE DISEASE; METABOLIC DISORDER; METHYLMAOLINIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; PHENOTYPE; PHENYLKETONURIA; PROPIONIC ACIDEMIA; SCREENING TEST; TANDEM MASS SPECTROMETRY; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY;

EARLY DIAGNOSIS; HUMANS; INFANT, NEWBORN; MASS SCREENING; NEONATAL SCREENING; OUTCOME ASSESSMENT (HEALTH CARE); PHENOTYPE; PHENYLKETONURIAS;

EID: 84880220110     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9598-y     Document Type: Conference Paper

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