Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome - Rosenfeld, Elizabeth; Nanga, Ravi Prakash Reddy; Lucas, Alfredo; Revell, Andrew Y.; Thomas, Allison; Thomas, Nina H.; Roalf, David R.; Shinohara, Russell T.; Reddy, Ravinder; Davis, Kathryn A.; De León, Diva D. (Orphanet journal of rare diseases, 2022)
Keywords: Age; Ammonia; Attention deficit hyperactivity disorder; Central nervous system; Cognition; Convulsions & seizures; Cross-Sectional Studies; Development and progression; Diagnosis; EEG; Electroencephalography; Epilepsy; Executive function; Female; Firing pattern; GluCEST; Glucose; GLUD1; Glutamate; Glutamate dehydrogenase; Glutamate Dehydrogenase - genetics; Glutamates; Hippocampus; Human Genetics; Humans; Hyperammonemia; Hyperammonemia - genetics; Hyperinsulinism - genetics; Hypoglycemia; Magnetic resonance imaging; Male; Medical research; Medicine; Medicine & Public Health; Methods; Mutation; Neuroimaging; Participation; Pharmacology/Toxicology; Phenotype; Phenotypes; Plasma; Rare diseases; Rare endocrinological diseases; Seizures; United States; GLUD1; Hypoglycemia; Glutamate; GluCEST; Epilepsy