- A Case of Maple Syrup Urine Disease detected by Tandem Mass Spectrometry in Newborn Screening Test
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O CG, Jung YS, Yoo BH, Lee DK, Lim IS
- KMID: 2188691
- J Korean Soc Neonatol.
- 2003 May;10(1):88-93.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder. Impaired activity of the branched-chain 2-oxo acid dehydrogenase complex causes accumulation of branched-chain L-amino and 2-oxo acid that can exert... -
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- Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation
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Ko JM, Shin CH, Yang SW, Cheong HI, Song J
- KMID: 1737959
- J Genet Med.
- 2014 Jun;11(1):22-26.
- doi: 10.5734/JGM.2014.11.1.22
Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been... -
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