Article
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jun 2020
Knottnerus Suzan J G, Pras-Raves Mia L, van der Ham Maria, Ferdinandusse Sacha, Houtkooper Riekelt H, Schielen Peter C J I, Visser Gepke, Wijburg Frits A, de Sain-van der Velden Monique G M
Abstract excerpt
PURPOSE: Newborns who test positive for very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) in newborn screening may have a severe phenotype with early onset of life-threatening symptoms but may also have an attenuated phenotype and never become symptomatic. The objective of this study is to investigate whether metabolomic profiles in dried bloodspots (DBS) of newborns allow early phenotypic prediction,...
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