Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
Author:
Affiliation:
1. ; Genetic Health Services Victoria; Murdoch Children's Research Institute; Parkville
2. ; NSW Newborn Screening Program; Westmead Children's Hospital; Sydney Australia
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000037343.90450.8d/fullpdf
Reference18 articles.
1. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency;Andresen;Am J Hum Genet,2001
2. Application of tandem mass spectrometry to biochemical genetics and newborn screening;Carpenter;Clin Chim Acta,2002
3. Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies;Carpenter;Arch Dis Child Fetal Neonatal Ed,2001
4. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism;Chace;Annu Rev Genomics Hum Genet,2002
5. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry;Clayton;Arch Dis Child,1998
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