Title: | VLCAD deficiency : pitfalls in newborn screening and confirmation of diagnosis by mutation analysis |
Journal : | Molecular genetics and metabolism, 88 |
Authors: | Boneh A ; Andresen BS ; Gregersen N ; Ibrahim M ; Tzanakos N ; Peters H ; Yaplito-Lee J ; Pitt JJ |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 166-170 |
Languages: | English |
Keywords : | acyl-CoA dehydrogenase deficiency ; blood ; diagnosis ; fatty acid beta-oxidation ; genetic mutations ; genotype-phenotype correlation ; long chain fatty acids ; mass spectrometry ; mitochondria ; neonatal screening ; newborn infants |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16488171&query_hl=7&itool=pubmed_docsum |