A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar
Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be readily diagnosed and can be included in the organic...
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Format: | Book |
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MDPI AG,
2017-03-01T00:00:00Z.
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A1234.567 |
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