Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme;Deficiëntie van het vetzuuroxidatie-enzym middenketen-acyl- coënzym-A-dehydrogenase (MCAD) bij een volwassene, opgespoord tijdens een proefproject voor neonatale screening

Nederlands Tijdschrift voor Geneeskunde

Volumn 148, Issue 44, 2004, Pages 2185-2190

  Derks, T G J ^a   Jakobs, H ^a   Gerding, A ^a   Niezen Koning, K E ^a   Reijngoud, D J ^a   Smit, G P A ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE;

ADULT; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; DIETARY INTAKE; DISEASE COURSE; ENZYME DEFICIENCY; FAMILY HISTORY; GEOGRAPHIC DISTRIBUTION; HEALTH PROGRAM; HUMAN; INFANT; LIFESTYLE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NETHERLANDS; NEWBORN SCREENING; PHENYLKETONURIA; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; FEMALE; GENETICS; MALE; MASS SCREENING; METHODOLOGY; MUTATION; NEWBORN;

ACYL-COA DEHYDROGENASES; FEMALE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MASS SCREENING; MUTATION; NEONATAL SCREENING;

EID: 7544223274     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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