Article ID Journal Published Year Pages File Type
3036434 Brain and Development 2016 4 Pages PDF
Abstract
Although other mechanisms cannot be fully excluded, the clinical manifestation of SSADH deficiency in this patient may be attributed to the combined effect of the mutation and the three enzyme activity-reducing SNPs. Urine metabolome analysis effectively detected his elevated GHB and is thus considered to be a good screening method for this underdiagnosed and potentially manageable metabolic disorder.
Related Topics
Life Sciences Neuroscience Developmental Neuroscience
Authors
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