Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening

Journal of Inherited Metabolic Disease

Volumn 31, Issue 4, 2008, Pages 550-

  Downing, Melanie ^a   Manning, N J ^a   Dalton, R N ^b   Krywawych, S ^c   Oerton, J ^d  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; GLYCINE DERIVATIVE; HEXANOYLGLYCINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

DIAGNOSTIC ACCURACY; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; LETTER; MASS SPECTROMETRY; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; QUALITATIVE ANALYSIS; RELIABILITY;

ACYL-COA DEHYDROGENASE; GLYCINE; GREAT BRITAIN; HUMANS; INFANT, NEWBORN; LABORATORY TECHNIQUES AND PROCEDURES; METABOLIC DISEASES; MULTICENTER STUDIES AS TOPIC; NEONATAL SCREENING; PILOT PROJECTS; SENSITIVITY AND SPECIFICITY;

EID: 50149084659     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-9976-z     Document Type: Letter

References (1)

1. Shortland G, Besley G, Bonham J, et al (2006) Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency (MCADD): Findings from a multicentre prospective UK collaborative study. J Inherit Metab Dis 29 (Supplement 1): 19.