Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.
Bleeker JC, et al.
J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.
J Inherit Metab Dis. 2019.
PMID: 30761551
Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. ...
Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by …