Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA

We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.v. insulin was...

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Detalles Bibliográficos
Autores principales: Galati, Alessio, Muciaccia, Rosalia, Marucci, Antonella, Di Paola, Rosa, Menzaghi, Claudia, Ortolani, Federica, Rutigliano, Alessandra, Rotondo, Arianna, Fischetto, Rita, Piccinno, Elvira, Delvecchio, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9517908/
https://www.ncbi.nlm.nih.gov/pubmed/36078750
http://dx.doi.org/10.3390/ijerph191711031

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9517908/
https://www.ncbi.nlm.nih.gov/pubmed/36078750
http://dx.doi.org/10.3390/ijerph191711031

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