[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].

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

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

Derks, T G; Jakobs, H; Gerding, A; Niezen-Koning, K E; Reijngoud, D J; Smit, G P A.

Affiliation

Derks TG; Sectie Metabole Ziekten, Academisch Ziekenhuis, Beatrix Kinderkliniek, Postbus 30.001, 9700 RB Groningen. t.g.j.derks@bkk.azg.nl

Ned Tijdschr Geneeskd ; 148(44): 2185-90, 2004 Oct 30.

Article in Nl | MEDLINE | ID: mdl-15559414

Subject(s)

Acyl-CoA Dehydrogenases/deficiency; Lipid Metabolism, Inborn Errors/diagnosis; Lipid Metabolism, Inborn Errors/genetics; Neonatal Screening/methods; Acyl-CoA Dehydrogenases/genetics; Female; Humans; Infant, Newborn; Male; Mass Screening/methods; Mutation

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Collection: 01-internacional Health context: 2_ODS3 / 6_ODS3_enfermedades_notrasmisibles / 7_ODS3_muertes_prevenibles_nacidos_ninos Database: MEDLINE Main subject: Neonatal Screening / Acyl-CoA Dehydrogenases / Lipid Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Female / Humans / Male / Newborn Language: Nl Journal: Ned Tijdschr Geneeskd Year: 2004 Document type: Article

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