Assessment of the diagnosis, treatment, and follow-up of a group of Turkish pediatric glycogen storage disease type 1b patients with varying clinical presentations and a novel mutation.
Aynur Küçükçongar YavaşAyşenur Engin ErdalBerrak Bilginer GürbüzAysel Ünlüsoy AksuÇiğdem Seher KasapkaraPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2023)
Neutropenia is an essential finding in GSD 1b and responsible for complications. The coexistence of hypoglycemia and neutropenia should bring to mind GSD 1b. Empagliflozin can be a treatment option for neutropenia, which is resistant to G-CSF treatment.