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...
Main Authors: | Mamatha Ramaswamy, Victor Anthony Skrinska, Ghassan Abdoh, Laila Mahmoud Ahmed, Rola Fayez Mitri, Ravi Joshi |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2017-03-01
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Series: | International Journal of Neonatal Screening |
Subjects: | |
Online Access: | http://www.mdpi.com/2409-515X/3/1/5 |
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