Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

BACKGROUND: Hyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1, encoding glutamate dehydrogenase (GDH). Atypical absence seizures and neuropsychological disorders occur at high rates in this form of hyperinsulinism. Dysregulated central nervous system (CNS) gl...

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Detalles Bibliográficos
Autores principales: Rosenfeld, Elizabeth, Nanga, Ravi Prakash Reddy, Lucas, Alfredo, Revell, Andrew Y., Thomas, Allison, Thomas, Nina H., Roalf, David R., Shinohara, Russel T., Reddy, Ravinder, Davis, Kathryn A., De León, Diva D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9233810/
https://www.ncbi.nlm.nih.gov/pubmed/35752848
http://dx.doi.org/10.1186/s13023-022-02398-3

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