MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessively inherited disorder of fatty acid oxidation with a potentially fatal outcome in undiagnosed patients. The introduction of tandem mass spectrometry into newborn screening (NBS) has led to the inclusion of MCADD in NBS i...

Full description

Bibliographic Details
Main Authors: Ralph Fingerhut, Pascal Joset, Niels J. Rupp, Martin Girsberger, Susanna H.M. Sluka, Theresia Herget, Silvia Miranda Azzarello-Burri, Anita Rauch, Matthias Baumgartner
Format: Article
Language:English
Published: MDPI AG 2017-08-01
Series:International Journal of Neonatal Screening
Subjects:
medium-chain acyl-CoA dehydrogenase deficiency
MCADD
newborn screening
NBS
dried blood spots
DBS
Online Access:https://www.mdpi.com/2409-515X/3/3/21

Internet

https://www.mdpi.com/2409-515X/3/3/21

Similar Items