An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.

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Doğruel H., Aydemir M., Yılmaz N., Sarı R.

Irish journal of medical science, cilt.193, sa.3, ss.1267-1273, 2024 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 193 Sayı: 3
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1007/s11845-024-03614-8
  • Dergi Adı: Irish journal of medical science
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Biotechnology Research Abstracts, CAB Abstracts
  • Sayfa Sayıları: ss.1267-1273
  • Anahtar Kelimeler: Fructose 1,6 bisphosphatase, Gluconeogenesis, Hypoglycemia, Metabolic disorder
  • Akdeniz Üniversitesi Adresli: Evet

Özet

https://pubmed.ncbi.nlm.nih.gov/38273074/