原创力文档The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario 英文参考文献.docVIP
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Kennedyetal.BMCPediatrics2010,10:82
/1471-2431/10/82
RESEARCH ARTICLE
OpenAccess
Thefirstthreeyearsofscreeningformedium
chainacyl-CoAdehydrogenasedeficiency
(MCADD)bynewbornscreeningontario
ShelleyKennedy1,BethKPotter2,KumananWilson1,2,3*,LawrenceFisher1,MichaelGeraghty1,4,JenniferMilburn1,
PraneshChakraborty1,4,5
Abstract
Background:Mediumchainacyl-CoAdehydrogenasedeficiency(MCADD)isadisorderofmitochondrialfattyacid
oxidationandisoneofthemostcommoninbornerrorsofmetabolism.IdentificationofMCADDvianewborn
screeningpermitstheintroductionofinterventionsthatcansignificantlyreduceassociatedmorbi
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