A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

• Автори: Mamatha Ramaswamy (Автор), Victor Anthony Skrinska (Автор), Ghassan Abdoh (Автор), Laila Mahmoud Ahmed (Автор), Rola Fayez Mitri (Автор), Ravi Joshi (Автор)
• Формат: Книга
• Опубліковано: MDPI AG, 2017-03-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

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...