Document Detail


Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
MedLine Citation:
PMID:  21429517     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
A neonate with elevated tetradecenoylcarnitine (C14:1) on the newborn screen was evaluated for possible very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and found to be a carrier. However, his symptom-free mother was subsequently diagnosed with VLCADD. This documents maternal VLCADD causing a positive newborn screening result in an offspring.
Authors:
Robin R McGoey; Michael Marble
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-21
Journal Detail:
Title:  The Journal of pediatrics     Volume:  -     ISSN:  1097-6833     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Mosby, Inc. All rights reserved.
Affiliation:
Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, Louisiana; Division of Clinical Genetics, Children's Hospital of New Orleans, New Orleans, Louisiana.
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