MCAD deficiency in Denmark.

Andresen, Brage Storstein; Lund, Allan Meldgaard; Hougaard, David Michael; Christensen, Ernst; Gahrn, Birthe; Christensen, Mette; Bross, Peter; Vested, Anne; Simonsen, Henrik; Skogstrand, Kristin; Olpin, Simon; Brandt, Niels Jacob; Skovby, Flemming; Nørgaard-Pedersen, Bent; Gregersen, Niels

Andresen, Brage Storstein; Lund, Allan Meldgaard; Hougaard, David Michael; Christensen, Ernst; Gahrn, Birthe; Christensen, Mette; Bross, Peter; Vested, Anne; Simonsen, Henrik; Skogstrand, Kristin; Olpin, Simon; Brandt, Niels Jacob; Skovby, Flemming; Nørgaard-Pedersen, Bent; Gregersen, Niels.

Affiliation

Andresen BS; Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark. bragea@bmb.sdu.dk

Mol Genet Metab ; 106(2): 175-88, 2012 Jun.

Article in En | MEDLINE | ID: mdl-22542437

Subject(s)

Lipid Metabolism, Inborn Errors/epidemiology; Acyl-CoA Dehydrogenase/deficiency; Acyl-CoA Dehydrogenase/genetics; Alleles; Base Sequence; Carnitine/analogs & derivatives; Carnitine/metabolism; Denmark/epidemiology; Family; Female; Genetic Association Studies; Genotype; Humans; Incidence; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors/diagnosis; Lipid Metabolism, Inborn Errors/genetics; Male; Mutation; Neonatal Screening; Phenotype; Tandem Mass Spectrometry

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Full text: 1 Database: MEDLINE Main subject: Lipid Metabolism, Inborn Errors Type of study: Diagnostic_studies / Incidence_studies / Prognostic_studies Limits: Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Year: 2012 Type: Article

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