https://www.selleckchem.com/pr....oducts/stat-in-1.htm
Further research is required to disentangle the underlying pathophysiologic mechanisms, leading to the complex phenotype of -related disorder. This family with a novel PCYT2 variant expands the clinical spectrum of PCYT2-related disorder to include axonal motor and sensory polyneuropathy and the genetic spectrum to include the variant located in the first catalytic domain, whereas all previously reported variants are located in the second catalytic domain. Further research is required to disentangle the underlying pathophysiologic mec
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