New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy

Hyperinsulinism/hyperammonemia syndrome (HI/HA) is an autosomal dominant disorder caused by monoallelic activating mutations in the glutamate dehydrogenase 1 (GLUD1) gene. While hyperinsulinism may be explained by a reduction in the allosteric inhibition of GLUD1, the pathogenesis of HA in HI/HA rem...

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Detalles Bibliográficos
Autores principales: Gariani, Karim, Klauser, Antoine, Vargas, Maria Isabel, Lazeyras, François, Tran, Christel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8946637/
https://www.ncbi.nlm.nih.gov/pubmed/35326344
http://dx.doi.org/10.3390/brainsci12030389

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