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Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.

Elizabeth RosenfeldRavi Prakash Reddy NangaAlfredo LucasAndrew Y RevellAllison ThomasNina H ThomasDavid R RoalfRussell T ShinoharaRavinder ReddyKathryn A DavisDiva D De León
Published in: Orphanet journal of rare diseases (2022)
The high prevalence of abnormal neurocognitive assessment scores and interictal EEG findings observed highlights the importance of longitudinal neuropsychological assessment for individuals with HI/HA syndrome. Our findings demonstrate the potential application of GluCEST to investigate persistent knowledge gaps in the mechanisms underlying the unique neurophenotype of this disorder.
Keyphrases
  • healthcare
  • case report
  • working memory
  • mild cognitive impairment
  • cross sectional
  • risk assessment
  • human health
  • cerebral ischemia
  • clinical evaluation