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

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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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: MDPI AG 2017-02-01
Series:International Journal of Neonatal Screening
Subjects:
VLCAD very long chain acyl-CoA dehydrogenase
newborn screening
false positive
oleic acid oxidation
fatty acid oxidation flux
enzyme assay
Online Access:http://www.mdpi.com/2409-515X/3/1/2

Internet

http://www.mdpi.com/2409-515X/3/1/2

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