1,846 research outputs found
Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.
Get PDFRapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry.
Get PDFRapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry.
Get PDFFalsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening.
Get PDFHyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
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Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy
Get PDFAuthor Correction: Metabolic GWAS of elite athletes reveals novel genetically-influenced metabolites associated with athletic performance
Get PDFAn amendment to this paper has been published and can be accessed via a link at the top of the paper
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
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