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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

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