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hrp0082p3-d1-874 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive K_ATP Channel Mutations

Demirbilek Huseyin , Arya Ved Bhushan , Ozbek Mehmet Nuri , Akinci Aysehan , Dogan Murat , Demirel Fatma , Houghton Jayne , Kaba Sultan , Guzel Fatma , Baran Riza Taner , Unal Sema , Tekkes Selahattin , Flanagan Sarah E , Ellard Sian , Husssain Khalid

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotypephenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

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ESPE Abstracts

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive K_ATP Channel Mutations

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ESPE Abstracts

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive KATP Channel Mutations

BiosciAbstracts

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive K_ATP Channel Mutations