Fibroblast Fatty-Acid Oxidation Flux Assays Stratify Risk in Newborns with Presumptive-Positive Results on Screening for Very-Long Chain Acyl-CoA Dehydrogenase Deficiency

Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pathogenic mutations and variants of uncertain signif...

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Autors principals:	Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2017-02-01
Col·lecció:	International Journal of Neonatal Screening
Matèries:	VLCAD very long chain acyl-CoA dehydrogenase newborn screening false positive oleic acid oxidation fatty acid oxidation flux enzyme assay
Accés en línia:	http://www.mdpi.com/2409-515X/3/1/2
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