Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

BACKGROUND: Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common type of congenital hyperinsulinism caused by an activating GLUD1 mutation. OBJECTIVE: The aim of this study was to determine the clinical profile and long-term neurological outcomes in children with HI/HA syndrome....

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Detalles Bibliográficos
Autores principales: Aftab, Sommayya, Gubaeva, Diliara, Houghton, Jayne A L, Dastamani, Antonia, Sotiridou, Ellada, Gilbert, Clare, Flanagan, Sarah E, Tiulpakov, Anatoly, Melikyan, Maria, Shah, Pratik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077222/
https://www.ncbi.nlm.nih.gov/pubmed/35951311
http://dx.doi.org/10.1530/EC-22-0008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10077222/
https://www.ncbi.nlm.nih.gov/pubmed/35951311
http://dx.doi.org/10.1530/EC-22-0008

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