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RSS FeedsCase report: maple syrup urine disease with a novel DBT gene mutation (BMC Pediatrics)

 
 

13 december 2019 20:04:09

 
Case report: maple syrup urine disease with a novel DBT gene mutation (BMC Pediatrics)
 


Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain ?-ketoacid dehydrogenase (BCKD) complex. Mutations in four genes (BCKDHA...


 
489 viewsCategory: Pediatrics
 
Application value of three-dimensional arterial spin labeling perfusion imaging in investigating cerebral blood flow dynamics in normal full-term neonates (BMC Pediatrics)
Gross motor developmental dysfunctional outcomes in infantile and toddler pediatric intensive care unit survivors (BMC Pediatrics)
 
 
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