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Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry

Pediatric Research · 1995 · Vol. 38(3) · pp. 324–331
Mohamed S. RashedPinar T. OzandMartin P. BucknallDouglas Little
Metabolism and Genetic DisordersMitochondrial Function and PathologyMetabolomics and Mass Spectrometry StudiesMethylmalonic acidemiaPropionic acidemiaTandem mass spectrometryChromatographyChemistryAmino acidElectrosprayCatabolismMass spectrometryNewborn screening

MeSH terms

AcetylcarnitineAmino AcidsAutomationBlood Chemical AnalysisHumansInfant, NewbornMetabolism, Inborn ErrorsSensitivity and SpecificityMass SpectrometryNeonatal Screening

Funding

  • King Faisal Specialist Hospital and Research Centre
Citations
341
FWCI
8.92
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