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Journal of Inherited Metabolic Disease
Metadata
Title
Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometry screening method for blood spots
Author
D. W. Johnson
Publication date
01-04-1999
Publisher
Kluwer Academic Publishers
Published in
Journal of Inherited Metabolic Disease / Issue 2/1999
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1023/A:1005443212817

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The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

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Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations

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Novel mutations in patients with fructose-1,6-bisphosphatase deficiency

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Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency

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