Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive K-ATP channel mutations


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Demirbilek H., Arya V. B., Ozbek M. N., AKINCI A., Dogan M., Demirel F., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.170, sa.6, ss.885-892, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 170 Sayı: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1530/eje-14-0045
  • Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.885-892
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Objective: Congenital hyperinsulinism (CHI) is the commonest cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous. The aim of this study was to describe the clinical characteristics, analyse the genotype phenotype correlations and describe the treatment outcome of Turkish CHI patients.